#bestfetalmedicinespecialistinhyderabad

[dr-sravanthi-vadlamudi]

Choroid Plexus Cysts

Choroid Plexus Cysts

#Choroid

#Plexus

#Cysts

#Chromosome

#Trisomy

#Fetus

These are found in approximately 2% of fetuses at 16–24 weeks of gestation but in more than 95% of cases they resolve by 28 weeks and are of no pathological significance. There is an association between choroid plexus cysts and chromosomal defects, particularly trisomy 18.

However, the vast majority of fetuses with trisomy 18 have multiple other abnormalities and therefore, the detection of fetal choroid plexus cysts should stimulate the sonographer to search for the other features of trisomy 18. If Chapter 2 • Sonographic features of chromosomal defects 61 the cysts are apparently isolated the risk for trisomy 18 is only marginally increased.

https://drsravanthivadlamudi.com/amniocentesis

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Duodenal Atresia

Duodenal Atresia

#Duodenal

#Atresia

#Stenosis

#Birth

#Inheritance

#Trisomy

The birth prevalence of duodenal atresia or stenosis is about 1 per 5,000. In most cases the condition is sporadic, although in some cases there is an autosomal recessive pattern of inheritance. Trisomy 21 is found in about 40% of cases.

https://drsravanthivadlamudi.com/chorionic-villous-sampling

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Limb Abnormalities

Limb Abnormalities

#Limbs

#Abnormalities

#Trisomies

#TurnersSyndrome

#LongBones

#Shortening

Trisomies 21, 18, triploidy and Turner syndrome are associated with relative shortening of the long bones. Syndactyly is associated with triploidy, clinodactyly and sandal gap with trisomy 21, polydactyly with trisomy 13, overlapping fingers, rocker bottom feet and talipes with trisomy 18

https://drsravanthivadlamudi.com/fetal-reduction

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Developmental Delay

Developmental Delay

#Development

#Delay

#Studies

#Longterm

#Chromosome

#Scans

#Children

Studies on the long term follow up of chromosomally and anatomically normal fetuses with increased NT reported that the prevalence of developmental delay is 2–4% (Souka et al 2004). 74 The 11–13+6 weeks scan

However, it is difficult to assess the true significance of these findings because only one of the studies had a control group for comparison. Brady et al (1998), performed a clinical follow up study of 89 children that in fetal life had NT of 3.5 mm or more and 302 children whose fetal NT was less than 3.5 mm.

Delay in achievement of developmental milestones was observed in one of the children in each group.

https://drsravanthivadlamudi.com/contact-us

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Cardiac Dysfunction

Cardiac Dysfunction

#Cardiac

#Dysfunction

#Fetal

#Chromosome

#Heart

#Doppler

#IncreasedNT

Central to the hypothesis that heart failure contributes to

increased NT is the observation that in both chromosomally

abnormal and normal fetuses there is a high association between

increased NT and abnormalities of the heart and great arteries.

Furthermore, Doppler studies have reported abnormal flow in

the ductus venosus in fetuses with chromosomal and/or major

cardiac defects and increased NT (Matias et al 1999).

https://drsravanthivadlamudi.com/about-us

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Venous Congestion In The Head And Neck

Venous Congestion In The Head And Neck

#Venous

#Congestion

#Head

#Neck

#Narrow

#Chest

#Dysplasias

Venous congestion in the head and neck could result from constriction of the fetal body as encountered in amnion rupture 86 The 11–13+6 weeks scan sequence, superior mediastinal compression found in diaphragmatic hernia or the narrow chest in skeletal dysplasias.

However, in at least some of the cases of skeletal dysplasias, such as osteogenesis imperfecta, an additional or alternative mechanism for the increased NT may be the altered composition of the extracellular matrix.

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialist

[dr-sravanthi-vadlamudi]

Management Of Pregnancies With Increased NT

Management Of Pregnancies With Increased NT

#Management

#Pregnanacy

#IntraUterine

#Fetal

#NuchalTranslucency

#Karyotype

#Chromosome

#Defects

#Diseases

The relation between NT thickness and chromosomal defects, miscarriage or fetal death and prevalence of major fetal defects . On the basis of these data it is possible to estimate, for each NT group, the chances of intrauterine

• Increased nuchal translucency with normal karyotype 89 Fetal NT below the 99th centile In pregnancies with fetal NT below the 99th centile (3.5 mm) the decision by the parents in favour or against fetal karyotyping will depend on the patient-specific risk for chromosomal defects, which is derived from the combination of maternal age, sonographic findings and serum free b-hCG and PAPP-A at 11–13+6 weeks.

The parents can be reassured that the chances of delivering a baby with no major abnormalities is about 97% for NT below the 95th centile and 93% for NT between the 95th and 99th centiles. Furthermore, many of the major fetal abnormalities can be diagnosed or suspected at the time of the high-resolution scan at 11–13+6 weeks.

Management of pregnancies with increased nuchal translucency thickness. survival and delivery of a healthy baby with no major defects. These data are useful in counselling parents of pregnancies with increased fetal NT and in planning the appropriate follow-up investigations

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Fetal NT Above The 99th Centile

Fetal NT Above The 99th Centile

#Fetal

#AboveThe99thCentile

#NuchalTranslucency (NT)

#Pregnancy

#Chromosome

#History

#Genetic

#Syndrome

A fetal NT above 3.5 mm is found in about 1% of pregnancies. The risk of major chromosomal defects is very high and increases from about 20% for NT of 4.0 mm to 33% for NT of 5.0 mm, 50% for NT of 6.0 mm and 65% for NT of 6.5 mm or more. Consequently, the first line of management of such pregnancies should be the offer of fetal karyotyping by CVS.

In patients with a family history of the genetic syndromes which are associated with increased NT and are amenable to prenatal diagnosis by DNA analysis (Table 3), the CVS sample can also be used for the diagnosis or exclusion of these syndromes. In addition, a detailed scan should be carried out at 11–13+6 weeks in search of the many major abnormalities that have been reported in association with increased NT

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Resolution Of Increased NT

Resolution Of Increased NT

#Resolution

#IncreasedNT

#Chromosome

#Fetal

#Echocardiography

#Prognosis

#Diagnosis

#NeuroDevelopment

In the chromosomally normal group, a detailed scan, including fetal echocardiography, should be carried out at 14–16 weeks to determine the evolution of the NT and to diagnose or exclude many fetal defects. If this scan demonstrates resolution of the NT and absence of any major abnormalities the parents can be reassured that the prognosis is likely to be good and the chances of delivering a baby with no major abnormalities is more than 95%.

The only necessary additional investigation is a detailed scan at 20–22 weeks for the exclusion or diagnosis of both major abnormalities and the more subtle defects that are associated with the genetic syndromes listed . If none of these is found, the parents can be counseled that the risk of delivering a baby with a serious abnormality or neurodevelopmental delay may not be higher than in the general population

https://drsravanthivadlamudi.com/nt

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Evolution To Nuchal Edema

Evolution To Nuchal Edema

#Evolution

#Nuchal

#Edema

#Fetal

#FollowUpScans

#DNA

#Testing

#History

Persistence of unexplained increased NT at the 14–16 weeks scan or evolution to nuchal edema or hydrops fetalis at 20–22 weeks, raise the possibility of congenital infection or a genetic syndrome. Maternal blood should be tested for toxoplasmosis, cytomegalovirus, and parvovirus B19.

Follow-up scans to define the evolution of the edema should be carried out every four weeks. Additionally, consideration should be given to DNA testing for certain genetic conditions, such as spinal muscular atrophy, even if there is no family history for these conditions

#DrSravanthiVadlmudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Fetal NT Below The 99th Centile

Fetal NT Below The 99th Centile

#Fetal

#99thCentile

#Karyotype

#Sonographic

#Parents

#Diagnosis

#HighResolutionScan

In pregnancies with fetal NT below the 99th centile (3.5 mm) the decision by the parents in favour or against fetal karyotyping will depend on the patient-specific risk for chromosomal defects, which is derived from the combination of maternal age, sonographic findings and serum free b-hCG and PAPP-A at 11–13+6 weeks.

The parents can be reassured that the chances of delivering a baby with no major abnormalities is about 97% for NT below the 95th centile and 93% for NT between the 95th and 99th centiles. Furthermore, many of the major fetal abnormalities can be diagnosed or suspected at the time of the high-resolution scan at 11–13+6 weeks

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Fetal Hypoproteinemia

#Fetal

#Hypoproteinemia

#Pathophysiology

#FirstTrimester

#Congenital

#NephroticSyndrome

Hypoproteinemia is implicated in the pathophysiology of both immune and non-immune hydrops fetalis (Nicolaides et al 1995). In the first trimester, hypoproteinemia due to proteinuria 88 The 11–13+6 weeks scan may be the underlying mechanism for the increased NT in fetuses with congenital nephrotic syndrome

https://drsravanthivadlamudi.com/down-syndrome

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Failure Of Lymphatic Drainage

Failure of Lymphatic Drainage

#Failure

#Lymphatic

#Drainage

#Dilation

#TurnersSyndrome

#Chromosome

A possible mechanism for increased NT is dilatation of the jugular lymphatic sacs, because of developmental delay in the connection with the venous system, or a primary abnormal dilatation or proliferation of the lymphatic channels interfering with a normal flow between the lymphatic and venous systems. Immunohistochemical studies in nuchal skin tissue from fetuses Chapter 3 • Increased nuchal translucency with normal karyotype 87 with Turner syndrome have shown that the lymphatic vessels in the upper dermis are hypoplastic (von Kaisenberg et al 1999).

In chromosomally normal fetuses with increased NT, deficient lymphatic drainage, due to hypoplastic or aplastic lymphatic vessels, is found in association with Noonan syndrome and congenital lymphedema. In congenital neuromuscular disorders, such as fetal akinesia deformation sequence, myotonic dystrophy and spinal muscular atrophy, increased NT may be the consequence of impaired lymphatic drainage due to reduced fetal movements

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Body Stalk Anomaly

Body Stalk Anomaly

#Body

#Stalk

#Anamoly

#Lethal

#Karyotype

#UmbilicalCord

#Ultrasonographic

This lethal, sporadic abnormality is found in about 1 in 10,000 fetuses at 10–13+6 weeks. The ultrasonographic features are major abdominal wall defect, severe kyphoscoliosis and short umbilical cord with a single artery (Daskalakis et al 1997).

The upper half of the fetal body is seen in the amniotic cavity, whereas the lower part is in the celomic cavity, suggesting that early amnion rupture before obliteration of the celomic cavity is a possible cause of the syndrome. Although the fetal NT is increased in about 85% of the cases, the karyotype is usually normal.

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Diaphragmatic Hernia

Diaphragmatic Hernia

#Diaphragmatic

#Hernia

#Birth

#Chromosome

#Sporadic

The birth prevalence of diaphragmatic hernia is about 1 per 4,000 and the condition is usually sporadic. The prevalence of chromosomal defects, mainly trisomy 18, is about 20%

https://drsravanthivadlamudi.com/3d-scans

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad

[dr-sravanthi-vadlamudi]

Increased Nuchal Translucency With Normal Karyotype

Increased Nuchal Translucency With Normal Karyotype

#Nuchal

#Translucency

#Increased

#Genetic

#Syndromes

#Deformations

Increased fetal NT thickness is a common phenotypic expression of trisomy 21 and other chromosomal abnormalities, but it is also associated with fetal death and a wide range of fetal malformations, deformations, dysgeneses, and genetic syndromes.

This outcome of chromosomally normal fetuses with increased NT,

On the basis of these data it is possible to estimate, for each NT group, the chances of intrauterine survival and delivery of a healthy baby with no major abnormalities. These data are useful in counselling parents of pregnancies with increased fetal NT and in planning the appropriate follow-up investigations.

https://drsravanthivadlamudi.com/your-guide-to-prenatal-testing-for-high-risk-pregnancy

#DrSravanthiVadlamudi

#BestFetalMedicineSpecialistInHyderabad