#microdeletion

[jcsmicasereports]

Trisomy 18 and Microdeletion 18p Mosaicism: A case report and literature review by Chao-Chun ZOU in Journal of Clinical Case Reports Medical Images and Health Sciences

ABSTRACT

The trisomy 18 syndrome is a common chromosomal disorder due to the presence of an extra chromosome 18, either complete, mosaic trisomy or partial trisomy 18q. The mosaic trisomy 18 patients’ phenotype was extremely variable, from the absence of dysmorphic features to complete trisomy 18 syndrome. The phenotype of 18p deletion syndrome is variable and almost all survived. A 2-year-old girl was referred to our hospital due to growth delay. Mild dysmorphy including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, downturned corners of the mouth, dysplasia teeth, small hands and fingers bilaterally was observed. The karyotype of peripheral leukocyte showed 46,XX, psu idic (18)(p11.2)[55]/46,XX, del (18)(p11.2)[45]. We report this case to add to our knowledge of the trisomy 18 and microdeletion 18p mosaicism.

Keywords: Trisomy 18, mosaic;18p microdeletion; Psychomotor retardation; Karyotype

INTRODUCTION

The trisomy 18 syndrome was first reported by Edwards et al in 1960, also known as Edwards syndrome. It is the second most common autosomal chromosomal disorder after trisomy 21（Down’s syndrome）due to the presence of an extra chromosome 18, which has three basic types: complete, mosaic and partial type (Edwards et al., 1960, Cereda and Carey, 2012,Mudaliyar and Mudaliyar, 2017). The syndrome presents a recognizable pattern of major and minor anomalies, significant psychomotor and cognitive disability are associated with high neonatal and infant morbidity and mortality. The estimated overall prevalence of trisomy 18 in live born is approximately 1/6, 000 to 1/8, 000 while the incidence in fetus is much higher, the difference is caused by fetal loss and pregnancy termination after prenatal diagnosis (Cereda and Carey, 2012, Rasmussen et al., 2003). The mosaic trisomy 18 usually means having more than one cell line in the individual, and it occurs in approximately 5 percent in all trisomy 18 patients (Fitas et al., 2013). The phenotypic manifestations are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome (Tucker et al., 2007). Since the clinical outcomes of complete and mosaic trisomy 18 can be different, it is of vital importance to achieve a correct diagnosis because of implications in medical management and genetic counselling. 18p deletion was first described by de Grouchy and colleagues in 1963 and was estimated to occur in approximately 1/50, 000 live born, which results from deletion of a part or full of the short arm of chromosome 18(Turleau, 2008). The mostly reported clinical features include cognitive impairment, congenital heart defects, small stature, minor facial dysmorphy, and skeletal deformities(Turleau, 2008, Xiao et al., 2019, Hasi-Zogaj et al., 2015, Yi et al., 2014)

Typical facial features include hypertelorism, ptosis, strabismus, broad–flat nose, micrognathia, and low-set big ears. Holoprosencephaly may be seen in approximately 10–15% of patients(Turleau, 2008). In addition, speech and language difficulties, pituitary abnormalities, generalized seizures, dystonia, and autoimmune diseases have also been described(Turleau, 2008, Rao et al., 2001, Graziadio et al., 2009, McGoey et al., 2011). However, these non-specific features are easily overlooked clinically. The clinical phenotype severity is related to the size and location of deletion region. In this report, we present a 2-year-old girl of mosaic trisomy 18 and 18p microdeletion with mild psychomotor retardation, cognitive impairment and language developmental disability.

Clinical description

A 2-year-old female second child of non-consanguineous parents was admitted to our hospital due to growth delay. Her mother and father were 34 years old and 38 years old when giving birth to her. She was born at full-term with uncomplicated gestation, her birth weight was 3.35 kg and the length was about 50 cm. No feeding difficulty and complications were referred in the neonatal period. She had a motor retardation of autonomous walking until 22-months old and intelligence disability and language disability. She only knew a few simple words like ”mama“, not ”baba“, and she cannot communicate clearly with others though she was willing to speak to strangers. Gesell Developmental Schedules performed in local hospital indicated mental developmental delay in motor behavior, language behavior, adaptive behavior and personal-social behavior at age of one year and 8 months old. The height of her father, mother and 15

years old sister were 165cm, 161cm, and 155cm, respectively. No similar history was noted in her family.

On physical examination, she had a height of 81.4 cm below -3SD and a weigh of 11.6 kg below -1SD. Mild craniofacial dysmorphy was present, including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, and downturned corners of the mouth while other craniofacial anomalies were not obvious (Fig.1A). Her hands were small especially her fingers, but the fingernails are normal (Fig.1B). Her teeth were dysplasia (Fig.1C). The echocardiography revealed patent foramen ovale (ϕ 2.96 mm) while no murmur was present. The muscle tension was normal and no other organ abnormality was detected in our patient.

Laboratory examinations (urine, liver, kidney, thyroid hormone, GS/MS and blood glucose analyses) were all normal. Insulin-like growth factor-1 was 72.5 ng/ml (normal range, 55-327 ng/ml).

Management and outcome

Ten months ago, the child was brought to a local hospital with developmental delay, the peripheral leukocyte karyotype was taken and revealed two abnormal cell lines, the result was 46,XX, psu idic (18)(p11.2)[55]/46, XX, del (18)(p11.2)[45] . She was then referred to another hospital to take the whole-exome sequencing demonstrating a deletion at 18p11.32-p11.22 (GRch37/hg19, chr18:158679 9708482del) and a duplication at

18p11.21-q23(GRch37/hg19, chr18:12012132 78005255dup). She was diagnosed mosaic trisomy 18 syndrome.

Discussion

The first reported patients with trisomy 18 syndrome were initially described by Edwards et al and Smith et al in 1960s, while the first case of mosaic trisomy 18 was reported in 1965. Less than 5% portion of patients have mosaicism of trisomy 18, and Banka et al reminded that routine karyotype from lymphocyte culture may not be sufficient to diagnose mosaicism if practitioners suspect a diagnosis of mosaic trisomy 18, karyotype from skin fibroblasts should be considered. Since then over 40 cases of mosaic trisomy 18 have been described, Tucker et al reviewed 33 reported individuals of mosaic trisomy 18 and added 2 more cases in 2007. Their clinical manifestations are extremely variable from complete trisomy 18 syndrome with early death to near totally normal. Some physical features are relatively more common and included brachydactyly, high arched palate, microcephaly, delayed bone age, frequent respiratory infections and otitis media, heart defect, 5th finger clinodactyly, micrognathia, and hypotonia. The most common heart defect is ventricular septal defect in mosaic trisomy 18. Our case has mild craniofacial dysmorphy and patent foramen ovale, and no other physical anomalies were observed.

Trisomy 18 mosaicism usually indicates the existence of more than one cell line in the individual. The peripheral leukocyte karyotype demonstrates pseudodicentric chromosome substituting a normal chromosome 18 in 55 cells and chromosome 18 missing the end of the short arm in 45 cells. The skin fibroblasts karyotype was not taken. Furthermore, there is no correlation between the physical and intellectual findings and the percentage of trisomy 18 cells in either peripheral leukocytes or skin fibroblasts. Besides, there is no correlation between the percentage of trisomic cells in peripheral leukocytes and brain, gonads, or other key organs. The variety of mosaic trisomy 18 may be related to the percentage of trisomic cells in different key organs of the body.

For complete trisomy 18 patients, approximately 50% of infants live longer than one week and about 5-10% of children survive beyond the first year. In overall, trisomy 18 mosaicism patients usually survive longer when compared to complete trisomy 18. This does not mean that all the mosaic trisomy 18 patients have a longer survival, some died a few hours after birth. For normal or mild phenotypical mosaic trisomy 18 cases, some were diagnosed due to recurrent miscarriages or giving birth to a child with trisomy 18 while others may never be identified. 18p deletion syndrome, also called monosomy 18p and De Grouchy syndrome type Ⅰ, which means a deletion of full short arm of chromosome 18 or a microdeletion of the short arm of chromosome 18. Some researches showed that nearly half of patients have breakpoints in the centromeric region and the rest scatter in the short arm, and approximately half of the deletions occur on the maternal chromosome 18 no matter where the breakpoint locations are. Our case’s breakpoint is at the 18p11.32-p11.22. Approximately two thirds of patients’18p deletion are de novo; the rest may be due to a de novo unbalanced translocation or malsegregation of parental chromosome rearrangement or a ring chromosome. The patient’s height and weight is 81.4 cm below -3SD, 11.6 kg below -1SD, respectively. It may be a prodrome of small stature, but her insulin-like growth factor-1 was normal. It also could be contributed to feeding problem. More follow-up work needs to be done to figure it out. Some reported cases show that growth hormone replacement treatment is efficient in growth hormone deficiency patients.

Our case has trisomy 18 and microdeletion 18p mosaicism simultaneously. The possibility of meiotic chromosomal nondisjunction of the ovogonia/spermatocyte was increased because of her parents’ advanced maternal age, some women may have higher a risk for nondisjunction. More possible mechanism may be a de novo unequal recombination occurring in early embryonic mitosis. Some deletions are from the parents, there is no way to figure her mutation mechanism out since we can not get her parents’ consent to analysis. The phenotype of our case combines two syndromes’ typical features, including common psychomotor retardation, cognitive impairment and congenital heart defect, characteristic small stature and language impairment of 18p deletion syndrome. Our case’s uncharacteristic craniofacial features also combine two syndromes.

In a conclusion, mosaic trisomy 18 and 18p deletion syndrome both are chromosomal disorders which has a variety of clinical manifestations. If an individual has untypical phenotypical anomalies and psychomotor and cognitive disability, chromosome disorder should be considered and cytogenic analysis is needed.

Acknowledgements: We thank the patient and his parents for permitting us to use the data.

[jcrmhscasereports]

Trisomy 18 and Microdeletion 18p Mosaicism: A case report and literature review by Chao-Chun ZOU in Journal of Clinical Case Reports Medical Images and Health Sciences

ABSTRACT

The trisomy 18 syndrome is a common chromosomal disorder due to the presence of an extra chromosome 18, either complete, mosaic trisomy or partial trisomy 18q. The mosaic trisomy 18 patients’ phenotype was extremely variable, from the absence of dysmorphic features to complete trisomy 18 syndrome. The phenotype of 18p deletion syndrome is variable and almost all survived. A 2-year-old girl was referred to our hospital due to growth delay. Mild dysmorphy including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, downturned corners of the mouth, dysplasia teeth, small hands and fingers bilaterally was observed. The karyotype of peripheral leukocyte showed 46,XX, psu idic (18)(p11.2)[55]/46,XX, del (18)(p11.2)[45]. We report this case to add to our knowledge of the trisomy 18 and microdeletion 18p mosaicism.

Keywords: Trisomy 18, mosaic;18p microdeletion; Psychomotor retardation; Karyotype

INTRODUCTION

The trisomy 18 syndrome was first reported by Edwards et al in 1960, also known as Edwards syndrome. It is the second most common autosomal chromosomal disorder after trisomy 21（Down’s syndrome）due to the presence of an extra chromosome 18, which has three basic types: complete, mosaic and partial type (Edwards et al., 1960, Cereda and Carey, 2012,Mudaliyar and Mudaliyar, 2017). The syndrome presents a recognizable pattern of major and minor anomalies, significant psychomotor and cognitive disability are associated with high neonatal and infant morbidity and mortality. The estimated overall prevalence of trisomy 18 in live born is approximately 1/6, 000 to 1/8, 000 while the incidence in fetus is much higher, the difference is caused by fetal loss and pregnancy termination after prenatal diagnosis (Cereda and Carey, 2012, Rasmussen et al., 2003). The mosaic trisomy 18 usually means having more than one cell line in the individual, and it occurs in approximately 5 percent in all trisomy 18 patients (Fitas et al., 2013). The phenotypic manifestations are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome (Tucker et al., 2007). Since the clinical outcomes of complete and mosaic trisomy 18 can be different, it is of vital importance to achieve a correct diagnosis because of implications in medical management and genetic counselling. 18p deletion was first described by de Grouchy and colleagues in 1963 and was estimated to occur in approximately 1/50, 000 live born, which results from deletion of a part or full of the short arm of chromosome 18(Turleau, 2008). The mostly reported clinical features include cognitive impairment, congenital heart defects, small stature, minor facial dysmorphy, and skeletal deformities(Turleau, 2008, Xiao et al., 2019, Hasi-Zogaj et al., 2015, Yi et al., 2014)

Typical facial features include hypertelorism, ptosis, strabismus, broad–flat nose, micrognathia, and low-set big ears. Holoprosencephaly may be seen in approximately 10–15% of patients(Turleau, 2008). In addition, speech and language difficulties, pituitary abnormalities, generalized seizures, dystonia, and autoimmune diseases have also been described(Turleau, 2008, Rao et al., 2001, Graziadio et al., 2009, McGoey et al., 2011). However, these non-specific features are easily overlooked clinically. The clinical phenotype severity is related to the size and location of deletion region. In this report, we present a 2-year-old girl of mosaic trisomy 18 and 18p microdeletion with mild psychomotor retardation, cognitive impairment and language developmental disability.

CLINICAL DESCRIPTION

A 2-year-old female second child of non-consanguineous parents was admitted to our hospital due to growth delay. Her mother and father were 34 years old and 38 years old when giving birth to her. She was born at full-term with uncomplicated gestation, her birth weight was 3.35 kg and the length was about 50 cm. No feeding difficulty and complications were referred in the neonatal period. She had a motor retardation of autonomous walking until 22-months old and intelligence disability and language disability. She only knew a few simple words like ”mama“, not ”baba“, and she cannot communicate clearly with others though she was willing to speak to strangers. Gesell Developmental Schedules performed in local hospital indicated mental developmental delay in motor behavior, language behavior, adaptive behavior and personal-social behavior at age of one year and 8 months old. The height of her father, mother and 15

years old sister were 165cm, 161cm, and 155cm, respectively. No similar history was noted in her family.

On physical examination, she had a height of 81.4 cm below -3SD and a weigh of 11.6 kg below -1SD. Mild craniofacial dysmorphy was present, including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, and downturned corners of the mouth while other craniofacial anomalies were not obvious (Fig.1A). Her hands were small especially her fingers, but the fingernails are normal (Fig.1B). Her teeth were dysplasia (Fig.1C). The echocardiography revealed patent foramen ovale (ϕ 2.96 mm) while no murmur was present. The muscle tension was normal and no other organ abnormality was detected in our patient.

Laboratory examinations (urine, liver, kidney, thyroid hormone, GS/MS and blood glucose analyses) were all normal. Insulin-like growth factor-1 was 72.5 ng/ml (normal range, 55-327 ng/ml).

MANAGEMENT AND OUTCOME

Ten months ago, the child was brought to a local hospital with developmental delay, the peripheral leukocyte karyotype was taken and revealed two abnormal cell lines, the result was 46,XX, psu idic (18)(p11.2)[55]/46, XX, del (18)(p11.2)[45] . She was then referred to another hospital to take the whole-exome sequencing demonstrating a deletion at 18p11.32-p11.22 (GRch37/hg19, chr18:158679 9708482del) and a duplication at

18p11.21-q23(GRch37/hg19, chr18:12012132 78005255dup). She was diagnosed mosaic trisomy 18 syndrome.

Figure 1: Clinical manifestation and karyotype of our patient. (A and B) thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, downturned corners of the mouth, small hands and fingers bilaterally; C) dysplasia teeth; (D) Karyotype shows 46,XX, psu idic (18)(p11.2)[55]/46,XX, del (18)(p11.2)[45]

DISCUSSION

The first reported patients with trisomy 18 syndrome were initially described by Edwards et al and Smith et al in 1960s, while the first case of mosaic trisomy 18 was reported in 1965. Less than 5% portion of patients have mosaicism of trisomy 18, and Banka et al reminded that routine karyotype from lymphocyte culture may not be sufficient to diagnose mosaicism if practitioners suspect a diagnosis of mosaic trisomy 18, karyotype from skin fibroblasts should be considered. Since then over 40 cases of mosaic trisomy 18 have been described, Tucker et al reviewed 33 reported individuals of mosaic trisomy 18 and added 2 more cases in 2007. Their clinical manifestations are extremely variable from complete trisomy 18 syndrome with early death to near totally normal. Some physical features are relatively more common and included brachydactyly, high arched palate, microcephaly, delayed bone age, frequent respiratory infections and otitis media, heart defect, 5th finger clinodactyly, micrognathia, and hypotonia. The most common heart defect is ventricular septal defect in mosaic trisomy 18. Our case has mild craniofacial dysmorphy and patent foramen ovale, and no other physical anomalies were observed.

Trisomy 18 mosaicism usually indicates the existence of more than one cell line in the individual. The peripheral leukocyte karyotype demonstrates pseudodicentric chromosome substituting a normal chromosome 18 in 55 cells and chromosome 18 missing the end of the short arm in 45 cells. The skin fibroblasts karyotype was not taken. Furthermore, there is no correlation between the physical and intellectual findings and the percentage of trisomy 18 cells in either peripheral leukocytes or skin fibroblasts. Besides, there is no correlation between the percentage of trisomic cells in peripheral leukocytes and brain, gonads, or other key organs. The variety of mosaic trisomy 18 may be related to the percentage of trisomic cells in different key organs of the body.

For complete trisomy 18 patients, approximately 50% of infants live longer than one week and about 5-10% of children survive beyond the first year. In overall, trisomy 18 mosaicism patients usually survive longer when compared to complete trisomy 18. This does not mean that all the mosaic trisomy 18 patients have a longer survival, some died a few hours after birth. For normal or mild phenotypical mosaic trisomy 18 cases, some were diagnosed due to recurrent miscarriages or giving birth to a child with trisomy 18 while others may never be identified. 18p deletion syndrome, also called monosomy 18p and De Grouchy syndrome type Ⅰ, which means a deletion of full short arm of chromosome 18 or a microdeletion of the short arm of chromosome 18. Some researches showed that nearly half of patients have breakpoints in the centromeric region and the rest scatter in the short arm, and approximately half of the deletions occur on the maternal chromosome 18 no matter where the breakpoint locations are. Our case’s breakpoint is at the 18p11.32-p11.22. Approximately two thirds of patients’18p deletion are de novo; the rest may be due to a de novo unbalanced translocation or malsegregation of parental chromosome rearrangement or a ring chromosome. The patient’s height and weight is 81.4 cm below -3SD, 11.6 kg below -1SD, respectively. It may be a prodrome of small stature, but her insulin-like growth factor-1 was normal. It also could be contributed to feeding problem. More follow-up work needs to be done to figure it out. Some reported cases show that growth hormone replacement treatment is efficient in growth hormone deficiency patients.

Our case has trisomy 18 and microdeletion 18p mosaicism simultaneously. The possibility of meiotic chromosomal nondisjunction of the ovogonia/spermatocyte was increased because of her parents’ advanced maternal age, some women may have higher a risk for nondisjunction. More possible mechanism may be a de novo unequal recombination occurring in early embryonic mitosis. Some deletions are from the parents, there is no way to figure her mutation mechanism out since we can not get her parents’ consent to analysis. The phenotype of our case combines two syndromes’ typical features, including common psychomotor retardation, cognitive impairment and congenital heart defect, characteristic small stature and language impairment of 18p deletion syndrome. Our case’s uncharacteristic craniofacial features also combine two syndromes.

In a conclusion, mosaic trisomy 18 and 18p deletion syndrome both are chromosomal disorders which has a variety of clinical manifestations. If an individual has untypical phenotypical anomalies and psychomotor and cognitive disability, chromosome disorder should be considered and cytogenic analysis is needed.

Acknowledgements: We thank the patient and his parents for permitting us to use the data.

For more information: https://jmedcasereportsimages.org/about-us/

For more submission : https://jmedcasereportsimages.org/

[thenocturnenarrator]

Hi! I'm Kayla, and I'm very shy irl, plus I have a disorder called: 2q23.1 microdeletion of a chromosome plus a duplication called 16p.13.11, I rp as sans, Toriel, frisk, plus sometimes I rp as horror sans.

Greetings Kayla!! It’s nice to meet you! ^^

In Narra, but, since everyone calls me that sometimes, you can call me Chara -v-

[addonhealthcare]

🔬 Microarray Chromosomes Analysis Test 🧬

Accurately detects microdeletions and duplications, providing essential insights for genetic disorders and personalized treatment options! 🌟

📞 +91 9900811118

Schedule your appointment today and gain a deeper understanding of your genetics! 🧬✨

[gestationalsurrogacy]

Types of Male Infertility Problems

Male infertility is a common issue affecting couples trying to conceive. Approximately 40–50% of infertility cases are attributed to male factors. There are various causes behind male infertility, and understanding these issues can help address them effectively. In this article, we will explore the types of male infertility problems and the ways in which they impact fertility.

1. Low Sperm Count (Oligospermia)

Low sperm count, also known as oligospermia, is one of the most common causes of male infertility. It occurs when the semen contains fewer sperm cells than the optimal amount required for fertilization. A normal sperm count should be at least 15 million sperm per milliliter. Various factors, such as hormonal imbalances, genetic disorders, or exposure to heat, toxins, and certain medications, can lead to low sperm count.

2. Poor Sperm Motility (Asthenospermia)

Sperm motility refers to the ability of sperm to move efficiently through the female reproductive tract to reach the egg. Poor sperm motility, or asthenospermia, hinders the chances of successful fertilization, as sperm cannot swim effectively. Causes of poor motility include infections, varicocele, smoking, excessive alcohol consumption, and exposure to chemicals.

3. Abnormal Sperm Shape (Teratospermia)

The shape and structure of sperm are crucial for successful conception. Abnormally shaped sperm, a condition known as teratospermia, may struggle to fertilize an egg due to structural issues. The abnormality could be related to the sperm head, tail, or overall size, reducing the sperm’s ability to penetrate and fertilize the egg. Lifestyle factors and genetics often play a role in teratospermia.

4. Varicocele

Varicocele is a condition characterized by the swelling of veins within the scrotum, similar to varicose veins in the legs. It can lead to decreased sperm quality and count due to increased temperature in the testes, which negatively affects sperm production. Varicocele is treatable, and in some cases, surgical correction can improve fertility outcomes.

5. Hormonal Imbalances

Contact Us:

Phone: +91–9899293903 Email: Info@gestationalsurrogacyindia.com

6. Ejaculation Disorders

Ejaculation issues can also contribute to male infertility. Retrograde ejaculation occurs when semen enters the bladder instead of being expelled from the penis. Other disorders, such as premature or delayed ejaculation, can also hinder the chances of conception. These conditions may arise from nerve damage, diabetes, or surgeries, but can often be treated with medications or therapy.

7. Genetic Disorders

Certain genetic conditions, such as Klinefelter syndrome, Y chromosome microdeletions, or cystic fibrosis, can lead to male infertility by impairing sperm production or function. Genetic testing is often recommended for men with no other identifiable cause of infertility, as some of these conditions are inherited.

8. Lifestyle Factors

Unhealthy lifestyle habits such as smoking, excessive alcohol intake, drug abuse, obesity, and exposure to environmental toxins can negatively impact sperm health. Making positive lifestyle changes like improving diet, exercising, and reducing stress can significantly enhance fertility in some cases.

Conclusion

Understanding the different types of male infertility problems is the first step towards addressing them. From low sperm count to genetic disorders, each condition requires targeted treatment for the best chance of successful conception. If you or your partner are experiencing fertility challenges, it’s essential to consult a specialist to determine the root cause and explore treatment options, such as those offered through Gestational Surrogacy India.

Contact Us:

Phone: +91–9899293903 Email: Info@gestationalsurrogacyindia.com

[pathologylab]

Introducing #G2M's LeoNext CfDNA Library Preparation #Kit for Non-Invasive Prenatal #Testing (NIPT)! This helps in detecting the common trisomies and sex chromosome aneuploidies with over 99.9% sensitivity and specificity. It screens for all 23 pairs of chromosomes. It can detect common #chromosomal aneuploidies like #Trisomy 21, 18, and 13, sex chromosomal aneuploidies, and over 80 microdeletions and duplications. With a rapid processing time of just 4 days, our end-to-end #solution is powered by the #NGS data analysis platform, Cliseq Interpreter, cloud-based #software for seamless data #analysis.

Unlock the power of advanced genetic insights with ease!

Contact us at social@genes2me.com or +91-8800821778 if you need any further assistance! Visit our website for more information: https://www.genes2me.com/next-generation-sequencing-clinical-panels/nipt-testing-solutions

#noninvasive #genes2me #risomy21 #trisomy18 #nextgenerationsequencing #diagnostics # #Genetics #HealthTech #Innovation

[twinkl22004]

“Azoospermia Factor”, Victor McKusick, “Mendelian Inheritance in Man”, 1966.

Here I present: Azoospermia Factor”, Victor McKusick, “Mendelian Inheritance in Man’, 1966.   Azoospermia factor (AZF), plus another  dozen (12) traits, are common male #Y chromosome disorders (shown ABOVE).INTRODUCTION. Azoospermia factor (AZF) is one of several genes, which are coded from the AZF region on the human male Y chromosome.  AZF microdeletions are one of the major causes of male…

[mohakivf]

First Indian Female Infertility Specialist Who Performed First ever Micro-TESE Procedure using Apple Vision Pro Technology

Azoospermia is a condition characterized by the complete absence of sperm cells in a man’s ejaculate. This is a serious form of male infertility that can have a variety of underlying causes. In men with azoospermia, the testes are unable to produce any viable sperm cells, which means they lack the ability to naturally fertilize a female partner’s egg during sexual intercourse. However, advances in assisted reproductive technologies, such as sperm extraction procedures and in vitro fertilization, have provided new hope for many azoospermic men to fulfill their dreams of fatherhood. With proper medical evaluation and treatment, many men with azoospermia can still achieve their goal of biological parenthood, despite the obstacles they face.

Male azoospermia, the absence of sperm in the ejaculate, can be caused by a variety of factors:

Obstructive Causes: Blockages in the reproductive tract, such as from previous surgeries, infections, or congenital conditions, can prevent sperm from being present in the ejaculate.

Non-Obstructive Causes: Issues with sperm production in the testes, due to genetic factors (like Klinefelter syndrome), hormonal imbalances, or damage from infections, can lead to azoospermia.

Genetic Factors: Chromosomal abnormalities, such as Y chromosome microdeletions, can impair sperm production.

Environmental Factors: Exposure to toxins, radiation, or excessive heat can negatively affect sperm production.

Medical Condition: Conditions such as diabetes, autoimmune diseases, or certain medications can also impact sperm production.

Diagnosing the exact cause often requires a combination of medical history, physical exams, hormonal assessments, and genetic testing.

Treatment for Male Azoospermia 

Treatment for male azoospermia, which is a condition where there is no sperm in the semen, depends on the underlying cause. Here are some common approaches:

Hormonal Therapy: If the azoospermia is due to hormonal imbalances, medications to correct hormone levels may be prescribed.

Lifestyle Changes: Improving lifestyle factors such as diet, exercise, and avoiding harmful substances can sometimes improve sperm production.

Assisted Reproductive Technologies (ART): In cases where natural treatment isn’t effective, ART techniques like intracytoplasmic sperm injection (ICSI) can be used, often with sperm retrieved directly from the testicles.

Genetic Counseling: If the azoospermia is due to genetic factors, counseling and evaluation of reproductive options might be necessary.

Surgical Options: For cases caused by blockages in the reproductive tract, surgery can sometimes restore sperm flow. Procedures like  testicular sperm extraction (TESE) may be used.

Testicular sperm extraction (TESE) is a medical procedure used to retrieve sperm directly from the testicles. It’s often performed on men who have obstructive azoospermia (a condition where sperm can’t travel from the testicles to the ejaculate due to a blockage) or non-obstructive azoospermia (a condition where sperm production is inadequate). The retrieved sperm can then be used for assisted reproductive techniques such as in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI).

Dr. Shilpa Bhandari recently introduced the Micro TESE procedure with Apple Vision Pro -  A Game Changer in male infertility. She is the first Indian female infertility specialist to perform the world's first Micro TESE procedure using cutting-edge Apple Vision Pro technology. Apple Vision has identified viable sperm in azoospermia men with an offer of hope for those infertile couples. This big decision of Dr. Shilpa Bhandari will bloom the minds of many couples and also serve the higher chances in assisted reproductive technology. The Apple Vision Pro is a mixed-reality headset designed for immersive experiences with augmented reality (AR) and virtual reality (VR). It features advanced optics, spatial audio, and hand-tracking capabilities.

[jamiecormier]

I'm Backkk!!!!

Hey Everyone, Sorry for the “hiatus”. Things got chaotic but in a good way for the most part. In March 2023, I returned to Baylor in Houston and got the results of my bloodwork – My “Chromosome Microdeletion” is 15.21.1-15.21.2 (its rather small) and very rare. there is no other deletion exactly like mine, there are some that are similar, but I am a medical anomaly (as if I didn’t know that…

[drrakeshsharma]

What diagnostic tests are typically used to assess male infertility in Jaipur?

Male infertility is a multifaceted issue that can arise from various underlying causes. In Jaipur, a city with a growing healthcare infrastructure, several diagnostic tests are utilized to identify and address male fertility concerns. If you or someone you know is facing infertility issues, understanding these tests can be an essential step toward effective diagnosis and treatment. Here’s an overview of the typical diagnostic tests used to assess male infertility:

1. Seminal Analysis (Semen Analysis)

Description: Seminal analysis is often the first test performed to evaluate male fertility. It examines the quantity and quality of sperm in a semen sample.

What It Measures:

Sperm Count: The number of sperm present in the ejaculate.

Sperm Motility: The percentage of sperm that are moving and their movement patterns.

Sperm Morphology: The shape and size of sperm.

Seminal Fluid Volume: The total volume of semen produced.

pH Level: The acidity or alkalinity of the semen.

Procedure: The patient provides a semen sample, usually after a period of abstinence. This sample is analyzed in a lab.

Where to Get It: Leading diagnostic centers and fertility clinics in Jaipur such as Fortis Escorts Hospital, and Medanta, offer seminal analysis services.

2. Hormonal Testing

Description: Hormonal testing assesses the levels of hormones that regulate sperm production and sexual function.

What It Measures:

Testosterone: The primary male sex hormone.

Luteinizing Hormone (LH): Stimulates testosterone production.

Follicle-Stimulating Hormone (FSH): Important for sperm production.

Prolactin: Elevated levels can affect fertility.

Procedure: Blood samples are drawn to measure hormone levels.

Where to Get It: This test is commonly available at diagnostic labs and hospitals like Apollo Hospitals and Rajasthan Hospital in Jaipur.

3. Genetic Testing

Description: Genetic testing identifies chromosomal abnormalities or genetic conditions that might affect fertility.

What It Measures:

Karyotype Analysis: Examines the number and structure of chromosomes.

Y-Chromosome Microdeletions: Specific deletions on the Y chromosome that can impact sperm production.

Procedure: Blood samples are analyzed for genetic markers.

Where to Get It: Specialized genetic labs and fertility clinics in Jaipur, such as Jaipur Fertility Centre, offer these services.

4. Scrotal Ultrasound

Description: A scrotal ultrasound provides images of the testicles and surrounding structures.

What It Measures:

Testicular Size and Structure: Identifies abnormalities like varicoceles or tumors.

Epididymal Issues: Evaluates conditions affecting sperm transport.

Procedure: This is a non-invasive imaging test using sound waves to create images of the scrotum.

Where to Get It: Available at major hospitals and diagnostic centers with imaging facilities, including Manipal Hospital and the Advanced Centre for Urology in Jaipur.

5. Post-Ejaculation Urine Analysis

Description: This test assesses whether sperm are present in the urine after ejaculation, which may indicate a condition known as retrograde ejaculation.

What It Measures:

Presence of Sperm: Detects sperm in the urine.

Procedure: Urine samples are collected after ejaculation and analyzed in a lab.

Where to Get It: This test can be conducted at fertility clinics and advanced diagnostic centers in Jaipur.

6. Testicular Biopsy

Description: A testicular biopsy is performed to directly examine the tissue of the testicles.

What It Measures:

Sperm Production: Assesses the presence of sperm within the testicular tissue.

Testicular Health: Identifies conditions like testicular failure.

Procedure: A small sample of testicular tissue is removed and examined under a microscope.

Where to Get It: Performed by urologists or fertility specialists at hospitals such as SMS Medical College Hospital or other specialized fertility centers in Jaipur.

Conclusion

Assessing male infertility involves a combination of diagnostic tests to pinpoint the underlying issues affecting sperm production and overall reproductive health. In Jaipur, a range of advanced medical facilities and diagnostic centers are equipped to perform these tests, offering a pathway to effective treatment and management. Consulting with a fertility specialist can help determine which tests are necessary based on individual symptoms and medical history.

For those seeking assistance, renowned institutions and clinics in Jaipur provide comprehensive diagnostic services and can guide you through the process of evaluation and treatment.

[mxoleander]

oh btw it turns out I have a microdeletion that makes me genetically an asshole and so does my mom and brothers

[healthyheart4u]

Male Fertility Overcoming Common Issues with Expert Treatments | Find the Best Gynecologist in Delhi

 Fertility issues are a common concern for many couples trying to conceive. While female fertility often gets more attention, male fertility problems can be equally significant. Understanding the common issues affecting male fertility and the available treatment options is crucial for couples facing difficulties in starting a family.

 Common Issues Affecting Male Fertility

Low Sperm Count

. one of the maximum commonplace causes of male infertility is a low sperm count.  This condition, known as oligospermia, means that the semen a man ejaculates contains fewer sperm than normal. Severe cases, called azoospermia, involve the complete absence of sperm in the ejaculate.

Poor Sperm Motility

Motility refers to the ability of sperm to move efficiently. In the Help of Best Infertility Clinic in Delhi  If sperm related problram and not moving properly, they may struggle to reach and fertilize the egg. Poor sperm motility, or asthenozoospermia, can significantly reduce the chances of conception.

Abnormal Sperm Shape

   The shape of sperm, or morphology, is another crucial factor. Sperm with abnormal shapes may not be able to fertilize an egg effectively. This condition is known as teratozoospermia.

Hormonal Imbalances

gulating sperm production. Imbalances in hormones such as testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) can impair sperm production and function.

Genetic Factors

certain genetic conditions, including Klinefelter syndrome or Y chromosome microdeletions, can have an effect on sperm manufacturing and exceptional  . These genetic issues can be inherited or occur spontaneously.

Varicocele

   A varicocele is an enlargement of the veins within the scrotum, similar to varicose veins in the legs. This condition can lead to reduced sperm production and quality, often requiring surgical intervention.

Infections

   Infections in the reproductive tract, such as epididymitis or prostatitis, can affect sperm production and health. Sexually transmitted infections (STIs) can also cause infertility if left untreated.

Lifestyle Factors

lifestyle alternatives may have a substantial effect on male fertility.. Factors such as smoking, excessive alcohol consumption, drug use, poor diet, obesity, and exposure to environmental toxins can all contribute to infertility.

Treatment Options for Male Fertility Issues

Lifestyle Changes

   Simple lifestyle changes can often improve fertility. Quitting smoking, reducing alcohol intake, maintaining a healthy weight, and avoiding drug use can enhance sperm quality. Eating a balanced diet rich in antioxidants, vitamins, and minerals also supports reproductive health.

Medications

Hormonal treatments can address imbalances affecting sperm production. For instance, medications like clomiphene citrate or gonadotropins may stimulate sperm production. Antibiotics can treat infections impacting fertility.

Surgery

   Surgical procedures can correct physical abnormalities affecting fertility. Varicocele repair is a common surgery that improves sperm quality by removing enlarged veins in the scrotum. In cases of obstructive azoospermia, surgery can remove blockages in the reproductive tract.

Assisted Reproductive Technologies (ART)

   Assisted reproductive technologies offer various options for couples facing infertility. Intrauterine insemination (IUI) involves placing sperm directly into the uterus to increase the chances of fertilization. In vitro fertilization (IVF) is another option where eggs are fertilized outside the body and then implanted into the uterus. Intracytoplasmic sperm injection (ICSI) involves injecting a single sperm directly into an egg, often used when sperm count or motility is severely impaired.

Sperm Retrieval Techniques

   For men with no sperm in their ejaculate, sperm retrieval techniques can be used. These include testicular sperm extraction (TESE) and percutaneous epididymal sperm aspiration (PESA).Retrieved sperm can then be used in art techniques like IVF or ICSI.

Donor Sperm

   In cases where male infertility cannot be treated effectively, using donor sperm is an option. Donor sperm can be used in IUI or IVF procedures to achieve pregnancy

Donor sperm may be utilized in IUI or IVF strategies to acquire pregnancy.

Choosing the Best Fertility Clinic

When facing fertility challenges, selecting the right clinic is crucial. The Best Fertility Clinic in Geeta Colony  and the  Best Fertility Clinic in Gazipur  are renowned for their high success rates and comprehensive services. These clinics offer state-of-the-art facilities and experienced specialists to guide you through the treatment process.

If you are seeking treatment in Delhi, consider the Best Infertility Clinic in Delhi and the Best Infertility Treatment in Delhi. These clinics provide personalized care and advanced treatment options to address both male and female infertility issues.

For those considering IVF, the Best IVF Centre in Delhi offers cutting-edge technology and expert care. Choosing a reputable clinic ensures you receive the highest standard of treatment and support throughout your fertility journey.

Why You Need the Best Gynecologist in Delhi

Finding the Best Gynecologist in Delhi  is essential for comprehensive fertility care. A skilled gynecologist can accurately diagnose underlying issues and recommend appropriate treatments. They work closely with fertility specialists to create a tailored treatment plan, ensuring the best possible outcome.

A top gynecologist provides valuable support and guidance, helping you navigate the emotional and physical challenges of infertility. Their expertise and compassionate care make a significant difference in your journey to parenthood.

  Conclusion

Male fertility issues are common but treatable. Understanding the common problems and available treatments is the first step toward overcoming infertility. Lifestyle changes, medications, surgery, and assisted reproductive technologies offer hope to many couples.

Choosing the right fertility clinic and gynecologist is crucial for successful treatment. The Best Fertility Clinic in Geeta Colony,  Best Fertility , and top clinics in Delhi provide exceptional care and support. Consult with the Best Gynecologist in Delhi to ensure comprehensive and effective fertility treatment.

With the right assist and treatment, many couples can attain their dream of parenthood. Don’t hesitate to are trying to find assist and discover the options available to you.

For more information:- https://drnalinigupta.in/

Contact us at:-+91 9599754466

Email us at:- info@drnalinigupta.com

[healthyidea4u]

Male Fertility Overcoming Common Issues with Expert Treatments | Find the Best Gynecologist in Delhi

Fertility issues are a common concern for many couples trying to conceive. While female fertility often gets more attention, male fertility problems can be equally significant. Understanding the common issues affecting male fertility and the available treatment options is crucial for couples facing difficulties in starting a family.

 Common Issues Affecting Male Fertility

Low Sperm Count

. one of the maximum commonplace causes of male infertility is a low sperm count.  This condition, known as oligospermia, means that the semen a man ejaculates contains fewer sperm than normal. Severe cases, called azoospermia, involve the complete absence of sperm in the ejaculate.

Poor Sperm Motility

Motility refers to the ability of sperm to move efficiently. In the Help of Best Infertility Clinic in Delhi  If sperm related problram and not moving properly, they may struggle to reach and fertilize the egg. Poor sperm motility, or asthenozoospermia, can significantly reduce the chances of conception.

Abnormal Sperm Shape

   The shape of sperm, or morphology, is another crucial factor. Sperm with abnormal shapes may not be able to fertilize an egg effectively. This condition is known as teratozoospermia.

Hormonal Imbalances

gulating sperm production. Imbalances in hormones such as testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) can impair sperm production and function.

Genetic Factors

certain genetic conditions, including Klinefelter syndrome or Y chromosome microdeletions, can have an effect on sperm manufacturing and exceptional  . These genetic issues can be inherited or occur spontaneously.

Varicocele

   A varicocele is an enlargement of the veins within the scrotum, similar to varicose veins in the legs. This condition can lead to reduced sperm production and quality, often requiring surgical intervention.

Infections

   Infections in the reproductive tract, such as epididymitis or prostatitis, can affect sperm production and health. Sexually transmitted infections (STIs) can also cause infertility if left untreated.

Lifestyle Factors

lifestyle alternatives may have a substantial effect on male fertility.. Factors such as smoking, excessive alcohol consumption, drug use, poor diet, obesity, and exposure to environmental toxins can all contribute to infertility.

Treatment Options for Male Fertility Issues

Lifestyle Changes

   Simple lifestyle changes can often improve fertility. Quitting smoking, reducing alcohol intake, maintaining a healthy weight, and avoiding drug use can enhance sperm quality. Eating a balanced diet rich in antioxidants, vitamins, and minerals also supports reproductive health.

Medications

Hormonal treatments can address imbalances affecting sperm production. For instance, medications like clomiphene citrate or gonadotropins may stimulate sperm production. Antibiotics can treat infections impacting fertility.

Surgery

   Surgical procedures can correct physical abnormalities affecting fertility. Varicocele repair is a common surgery that improves sperm quality by removing enlarged veins in the scrotum. In cases of obstructive azoospermia, surgery can remove blockages in the reproductive tract.

Assisted Reproductive Technologies (ART)

   Assisted reproductive technologies offer various options for couples facing infertility. Intrauterine insemination (IUI) involves placing sperm directly into the uterus to increase the chances of fertilization. In vitro fertilization (IVF) is another option where eggs are fertilized outside the body and then implanted into the uterus. Intracytoplasmic sperm injection (ICSI) involves injecting a single sperm directly into an egg, often used when sperm count or motility is severely impaired.

Sperm Retrieval Techniques

   For men with no sperm in their ejaculate, sperm retrieval techniques can be used. These include testicular sperm extraction (TESE) and percutaneous epididymal sperm aspiration (PESA).Retrieved sperm can then be used in art techniques like IVF or ICSI.

Donor Sperm

   In cases where male infertility cannot be treated effectively, using donor sperm is an option. Donor sperm can be used in IUI or IVF procedures to achieve pregnancy

Donor sperm may be utilized in IUI or IVF strategies to acquire pregnancy.

Choosing the Best Fertility Clinic

When facing fertility challenges, selecting the right clinic is crucial. The Best Fertility Clinic in Geeta Colony  and the  Best Fertility Clinic in Gazipur  are renowned for their high success rates and comprehensive services. These clinics offer state-of-the-art facilities and experienced specialists to guide you through the treatment process.

If you are seeking treatment in Delhi, consider the Best Infertility Clinic in Delhi and the Best Infertility Treatment in Delhi. These clinics provide personalized care and advanced treatment options to address both male and female infertility issues.

For those considering IVF, the Best IVF Centre in Delhi offers cutting-edge technology and expert care. Choosing a reputable clinic ensures you receive the highest standard of treatment and support throughout your fertility journey.

Why You Need the Best Gynecologist in Delhi

Finding the Best Gynecologist in Delhi  is essential for comprehensive fertility care. A skilled gynecologist can accurately diagnose underlying issues and recommend appropriate treatments. They work closely with fertility specialists to create a tailored treatment plan, ensuring the best possible outcome.

A top gynecologist provides valuable support and guidance, helping you navigate the emotional and physical challenges of infertility. Their expertise and compassionate care make a significant difference in your journey to parenthood.

  Conclusion

Male fertility issues are common but treatable. Understanding the common problems and available treatments is the first step toward overcoming infertility. Lifestyle changes, medications, surgery, and assisted reproductive technologies offer hope to many couples.

Choosing the right fertility clinic and gynecologist is crucial for successful treatment. The Best Fertility Clinic in Geeta Colony,  Best Fertility , and top clinics in Delhi provide exceptional care and support. Consult with the Best Gynecologist in Delhi to ensure comprehensive and effective fertility treatment.

With the right assist and treatment, many couples can attain their dream of parenthood. Don’t hesitate to are trying to find assist and discover the options available to you.

For more information:- https://drnalinigupta.in/

Contact us at:-+91 9599754466

Email us at:- info@drnalinigupta.com

[medicalprocare]

Fertility Tests For Men: A Guide by a Fertility Specialist in Delhi

When it comes to understanding fertility, it’s essential to remember that both partners play an equally important role. If you’re facing challenges in conceiving, consulting a Fertility Specialist in Delhi can provide valuable insights and guidance. Here, we focus on the key fertility tests for men that can help diagnose and address potential issues.

Why Are Fertility Tests Important for Men?

Male fertility issues account for approximately 40–50% of all infertility cases. Therefore, a thorough evaluation by a Fertility Specialist in Delhi is crucial for a comprehensive understanding of any underlying problems. Early diagnosis can lead to more effective treatment plans and a higher chance of successful conception.

Common Fertility Tests for Men

1. Semen Analysis

A semen analysis is the cornerstone of male fertility testing. It evaluates:

Sperm Count: The number of sperm present in the semen.

Sperm Motility: The ability of sperm to move effectively.

Sperm Morphology: The shape and structure of the sperm.

Seminal Fluid Volume: The amount of semen produced.

This test helps in identifying issues like low sperm count, poor motility, or abnormal morphology, which can significantly impact fertility.

2. Hormone Testing

Hormones play a crucial role in regulating sperm production and overall reproductive health. Blood tests measure levels of:

Testosterone: The primary male sex hormone.

Follicle-Stimulating Hormone (FSH): Involved in sperm production.

Luteinizing Hormone (LH): Stimulates testosterone production.

Prolactin: High levels can negatively impact sperm production.

An imbalance in these hormones can indicate issues such as hypogonadism or pituitary disorders.

3. Genetic Testing

Genetic tests can identify chromosomal abnormalities or genetic mutations that may affect fertility. Conditions such as Klinefelter syndrome or Y chromosome microdeletions can be detected through these tests, providing valuable information for treatment planning.

4. Testicular Biopsy

A testicular biopsy involves taking a small tissue sample from the testicles to examine sperm production directly. This test is usually recommended if semen analysis results are abnormal and can help identify blockages or issues with sperm production.

5. Imaging Tests

Ultrasound and other imaging tests can detect structural abnormalities or blockages in the reproductive organs. These tests can identify conditions like varicocele (enlarged veins in the scrotum) that may affect sperm production and quality.

6. Post-Ejaculation Urinalysis

This test checks for the presence of sperm in the urine, which may indicate retrograde ejaculation, a condition where sperm enters the bladder instead of exiting through the urethra.

Consulting a Fertility Specialist in Delhi

If you are experiencing difficulties in conceiving, seeking the expertise of a Fertility Specialist in Delhi is a crucial step. Specialists can provide comprehensive testing, accurate diagnosis, and personalized treatment plans to address male fertility issues.

Benefits of Consulting a Fertility Specialist

Expert Diagnosis: Accurate identification of underlying fertility issues.

Advanced Treatments: Access to the latest fertility treatments and technologies.

Personalized Care: Tailored treatment plans based on individual needs.

Support and Guidance: Emotional and psychological support throughout the fertility journey.

Conclusion

Understanding and addressing male fertility issues is a vital part of the journey to parenthood. With the expertise of a Fertility Specialist in Delhi, men can undergo necessary tests to diagnose potential problems and receive effective treatments. If you are facing challenges in conceiving, don’t hesitate to seek professional help. Early intervention can significantly improve the chances of achieving a successful pregnancy.

[vaidyaslaboratory]

Comprehensive Prenatal Screening: NIPT with Microdeletion Test by Dr. Vaidya’s Laboratory

Enhance your prenatal care with Dr. Vaidya’s Laboratory’s NIPT with Microdeletion test. This advanced, non-invasive screening detects smaller genetic changes for thorough insights into your baby's health. Schedule a free home visit for the most accurate prenatal screening. Contact us via WhatsApp at 8591735087 or call our 24/7 helpline at 1800 266 8992. Ensure the best start for your child with Dr. Vaidya’s Laboratory.