Renée Chard

Noninvasive prenatal testing: Impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection

The aim of this study was to compare rates of genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection among women at increased risk for aneuploidy, before versus after the availability of noninvasive prenatal testing (NIPT).

Childhood cardiac function after prenatal diagnosis of intracardiac echogenic foci.

Objective. To determine whether prenatally diagnosed intracardiac echogenic foci are associated with childhood cardiac dysfunction and persistence. Methods. Children in whom intracardiac echogenic foci were shown on prenatal sonography at 1 perinatal center underwent echocardiography at ages 2 to 7 years. A single pediatric cardiologist, blinded to the prenatal sonographic intracardiac echogenic focus locations, assessed cardiac function by measuring the left ventricular shortening fraction and myocardial performance index. The presence of tricuspid and mitral valve regurgitation was also sought. The secondary outcome was intracardiac echogenic focus persistence. Results. Twenty‐five children, 14 (56%) male and 11 (44%) female, were examined at a mean age ± SD of 3.0 ± 1.0 years. Prenatally, 18 children (72%) had left ventricular intracardiac echogenic foci, and 7 (28%) had right ventricular intracardiac echogenic foci. The left ventricular shortening fraction was normal in all children. The overall mean left ventricular myocardial performance index (reference value, 0.36 ± 0.06), was normal for both children with left ventricular intracardiac echogenic foci (0.36 ± 0.06) and those with right ventricular intracardiac echogenic foci (0.36 ± 0.04). Two children with left ventricular intracardiac echogenic foci had an isolated left ventricular myocardial performance index of greater than 2.5 SD above the mean. Trace tricuspid valve regurgitation and mitral valve regurgitation were noted in 13 (52%) and 2 (8%) of the children, respectively, similar to the general population. Left ventricular intracardiac echogenic foci persisted in 16 children (89%), whereas right ventricular intracardiac echogenic foci persisted in 2 (29%) (P = .007). Conclusions. Prenatally diagnosed intracardiac echogenic foci are often persistent but not associated with childhood myocardial dysfunction.

Reducing pain with genetic amniocentesis—A randomized trial of subfreezing versus room temperature needles

Objective. To determine whether pain associated with second trimester genetic amniocentesis is decreased by using subfreezing rather than room temperature needles. Methods. Subjects were randomized to a −14°C or room temperature (20–22°C) 22-gauge spinal needle. Patients, blinded to allocation, recorded anticipated and actual pain before and after the procedure, respectively, using a 0–10 visual analog scale with 0 = no pain and 10 = excruciating pain. Results. Thirty-three subjects were randomized to room temperature and 29 subjects to subfreezing needles. Anticipated pain was similar in room temperature, 5.1 ± 1.7, and subfreezing groups, 4.9 ± 2.0, respectively (p = 0.6). Actual pain was also similar in the room temperature, 3.6 ± 2.0, and subfreezing groups, 2.8 ± 2.0, respectively (p = 0.14). Similar numbers of subjects in the room temperature and subfreezing groups reported less actual pain (20 vs. 18), greater actual pain (4 vs. 4) or no difference in pain (9 vs. 5) than anticipated (p = 0.6). Conclusion. A subfreezing 22-gauge spinal needle does not decrease perceived pain associated with second trimester genetic amniocentesis.

Pain associated with chorionic villus sampling: transabdominal vs transcervical approach

OBJECTIVE The purpose of this study was to compare anticipated and perceived pain that is associated with transabdominal and transcervical chorionic villus sampling (CVS). STUDY DESIGN Women with singleton pregnancies who were undergoing CVS completed a preprocedure 0-10 visual analog scale (VAS; 0 = no pain, 10 = excruciating pain) for anticipated transabdominal and transcervical CVS-related pain. After the procedure, patients completed a VAS for perceived pain. RESULTS One hundred twenty-one women underwent transabdominal (n = 98) or transcervical (n = 23) CVS. Anticipated pain was 4.5 +/- 2.0, which was similar in patients who ultimately underwent transabdominal (score, 4.6 +/- 3.8) or transcervical (score, 4.1 +/- 2.2) CVS. Postprocedure perceived pain was similar for transabdominal CVS in women with an abdominal wall thickness of <4 cm (score, 2.3 +/- 0.8) and transcervical CVS (score, 2.6 +/- 2.2) but was significantly greater for transabdominal CVS among women with an abdominal wall thickness of > or =4 cm (score, 5.6 +/- 1.2; P < .0001) and nulliparous women who had transcervical CVS (score, 4.3 +/- 2.1; P = .01). CONCLUSION Transabdominal CVS is more painful in heavier women, and transcervical CVS is more painful in nulliparous women.

Prenatal diagnosis of nonmosaic trisomy 9 and related ultrasound findings at 11.7 weeks

Trisomy 9 is a relatively rare chromosomal abnormality. There have been no reports of first trimester ultrasound findings associated with mosaic or nonmosaic trisomy 9 in the literature. A case of nonmosaic trisomy 9 diagnosed prenatally with ultrasound findings at 11.7 weeks gestation is presented along with associated abnormal ultrasound findings.

Second-trimester prenasal and prefrontal skin thickening—Association with MECP2 triplication syndrome

MECP2 triplication syndrome is a rare and usually lethal genetic disorder characterized by progressive neurologic and cognitive regression. None of the four reported cases describe prenatal sonographic features of affected offspring. We report a second‐trimester fetus with marked prefrontal and prenasal skin thickening, retrognathia, and later, third‐trimester mild cerebral ventriculomegaly. Amniocyte karyotype was normal male, but newborn whole‐genome oligonucleotide microarray showed duplication and triplication of chromosome Xq28 containing the MECP2 gene. Comparative genomic hybridization may be diagnostic in fetuses with prefrontal and prenasal skin thickening, additional sonographic findings, and normal karyotype.

Pain associated with transabdominal chorionic villus sampling—Anticipated versus actual

Objective. To assess anticipated and perceived pain associated with transabdominal chorionic villus sampling (TA CVS). Methods. Sixteen consecutive patients completed 0 (no pain) to 10 (excruciating pain) visual analog scales before and after TA CVS. Results. Anticipated pain (5.1 ± 2.9) and perceived pain (5.5 ± 3.2) were similar (p = 0.42) and moderate. Actual pain was less in five (31%), the same in six (38%), and greater in five (31%) compared to anticipated pain. Conclusions. These baseline data are useful for patient counseling and designing interventional trials to decrease procedural pain. TA CVS is associated with moderate perceived pain.

P09.05: A randomized single blinded trial of subfreezing versus room temperature needles to reduce pain with amniocentesis

Results: Excellent visualization of the external fetal anatomy was obtained in 83% of cases (5/6) with the duration of procedures ranging 15 to 40 minutes. A diagnosis of Meckel-Gruber syndrome was made at 13 + 1 weeks of gestation by visualizing postaxial polydactyly and an occipital encephalocele. Subsequently the pregnancy was terminated. Three full-term infants were delivered with no gross limb or facial abnormalities. Amniotic fluid leakage after the procedure occurred in 2 cases resulting in termination of pregnancy. Conclusion: Our experiences confirm the efficacy of embryofetoscopy for early diagnosis in the first trimester of pregnancy. Procedure-related risks are to be established by multicenter studies.

Prenatal aneuploidy screening using cell-free DNA

REFERENCES 1. Hammers AL, Sanchez-Ramos L, Kaunitz AM. Antenatal exposure to indomethacin increases the risk of severe intraventricular hemorrhage, necrotizing enterocolitis, and periventricular leukomalacia: a systematic review with metaanalysis. Am J Obstet Gynecol 2015;212:505.e1-13. 2. Ment LR, Ådén U, Lin A, et al. Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates. Pediatr Res 2014;75: 241-50. 3. Klinger G, Sokolover N, Boyko V, et al. Perinatal risk factors for bronchopulmonary dysplasia in a national cohort of very-low-birthweight infants. Am J Obstet Gynecol 2013;208:115.e1-9. 4. Eronen M, Pesonen E, Kurki T, Teramo K, Ylikorkala O, Hallman M. Increased incidence of bronchopulmonary dysplasia after antenatal administration of indomethacin to prevent preterm labor. J Pediatr 1994;124:782-8.

Two- and three-dimensional prenatal sonographic diagnosis of alagille syndrome

We describe a case of Alagille syndrome diagnosed by second‐trimester ultrasound. Features included the characteristic prominent chin, single umbilical artery, and hemivertebrae. Three‐dimensional imaging demonstrated classic butterfly vertebrae, which were not otherwise appreciable. Alagille syndrome may be detected by second‐trimester ultrasound in the at‐risk fetus.