Rachael Bradshaw

Efficiency of first‐trimester growth restriction and low pregnancy‐associated plasma protein‐A in predicting small for gestational age at delivery

To evaluate the efficiency of first‐trimester fetal growth restriction (FGR), low pregnancy‐associated plasma protein A (PAPP‐A), and their combination for predicting small for gestational age (SGA) at delivery.

The Genetic Sonogram Comparing the Use of Likelihood Ratios Versus Logistic Regression Coefficients for Down Syndrome Screening

The purpose of this study was to compare the screening efficiency for Down syndrome using likelihood ratios versus logistic regression coefficients.

145 – Smith-Lemli-Opitz Syndrome

Abstract Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the gene encoding the 7-dehydrocholesterol reductase (7-DHC) resulting in decreased or absent function of this enzyme responsible for catalyzing the final step in cholesterol synthesis. Increased levels of 7-DHC and typically a reduction in cholesterol synthesis are seen in affected individuals. Diagnosis is made based on elevated 7-DHC. The estimated incidence of SLOS is 1 : 39,000 conceptions, with a carrier rate of approximately 1%. Higher carrier prevalence is reported in individuals of European or North American heritage. SLOS is characterized by growth failure, cognitive delay, behavioral disturbances, dysmorphic faces, and congenital defects. There is marked variability in the presentation of this condition ranging from mild effects that an individual remains undiagnosed, to fetal or neonatal death. The following findings on ultrasound (syndactyly/polydactyly, growth restriction, microcephaly, micrognathia, cleft palate, cardiac defects, and ambiguous male genitalia) in association with low maternal serum estriol and normal karyotype are highly suggestive of SLOS. Prenatal testing is available in at-risk pregnancies. Common postnatal therapies for SLOS include dietary cholesterol supplementation and surgical intervention, for the given defect or defects as appropriate.

Meckel-Gruber Syndrome

Abstract Meckel-Gruber syndrome is a severe ciliopathy first described in 1822. The worldwide incidence ranges from 1 : 1300 in Gujarati Indians to 1 : 140,000 in England. Twelve genetic mutations are associated with Meckel-Gruber syndrome (designated MKS1 through MKS12). In all cases, this disorder has shown autosomal recessive inheritance. The diagnosis of Meckel-Gruber syndrome is typically made by prenatal ultrasound examination in the first or second trimester. Meckel-Gruber syndrome is considered in an individual with a normal karyotype who has at least two of the three classic features: occipital encephalocele; large, polycystic kidneys; and postaxial polydactyly. Most affected individuals die in utero or mothers elect for termination of pregnancy. The postnatal mortality is 100% for individuals who survive to birth, with the longest survivor dying at 28 months. The major causes of death are pulmonary hypoplasia from oligohydramnios and liver disease.

Cornelia de Lange Syndrome

Abstract Cornelia de Lange syndrome (CdLS) should be considered in any fetus with growth restriction in addition to limb or craniofacial abnormalities, with or without a congenital heart defect. Classic sonographic signs of CdLS include increased first-trimester nuchal translucency, intrauterine growth restriction, short or absent upper limbs, absent digits, fifth finger clinodactyly, syndactyly, radial hypoplasia, microcephaly, micrognathia, and congenital heart defects. However, unless there is a previous family history of CdLS, prenatal diagnosis is unlikely to be possible, and the diagnosis will have to be made after postnatal examination. In families with a history of CdLS where a mutation has been identified, prenatal diagnosis by chorionic villus sampling or amniocentesis is likely to be available. Normal first-trimester nuchal translucency, normal first-trimester or second-trimester maternal serum pregnancy-associated plasma protein A, or a normal second-trimester ultrasound examination in a fetus with a family history of CdLS is largely reassuring but cannot entirely rule out recurrence. Because most cases of CdLS are de novo, couples who do not have CdLS but have a previously affected child have a 1.5% risk of recurrence. If a parent of the affected child has CdLS, there is a 50% chance of a recurrence for each pregnancy.

OP34.09: Association between first‐trimester fetal growth restriction and small for gestational age (SGA) deliveries

or growth restriction. There were no statistically significant differences between the groups regarding the age, gestational age at the examination or delivery, number of pregnancy or the nuchal translucency measurement. The placental volume was similar between the groups (55.74 ± 20.45 ml in the normal group and 52.91 ± 19.19 ml when hypertension developed and 48.09 ± 21.43 ml when IUGR developed and 50.45 ± 20.62 ml when either hypertension or IUGR developed). The 3D-PD indices were similar between the groups except the VI which was significantly lower when hypertension developed (7.86 ± 3.92 vs. 12.02 ± 7.09 in the normal group and 14.47 ± 8.47 when IUGR developed −P = 0.035). Interestingly the CRL was significantly smaller comparing the normal group and when either hypertension or IUGR developed (59.04 ± 8.89 and 54.29 ± 6.50 respectively, P = 0.02). Conclusions: Placental volume is not appropriate for early prediction of hypertension or IUGR while the vascularity index may be of some potential in the detection of these patients. The value of the small CRL in these patients should be further tested in larger groups.