Eskildsenmackinnon8674

We present two cases of fetal akinesia detected by first trimester ultrasound with noticing reduced fetal movements.

Both of the two cases presented with reduced fetal movements. Fetal microarray results were normal. Follow-up sonographic examinations showed that Case 1 had structural anomalies with reduced fetal movements, and Case 2 had findings of reduced fetal movements and olyhydramnios. Case 1 ended with termination of pregnancy, and was confirmed to suffer from distal arthrogryposis (DA) type 5D (DA5D) with two pathogenic ECEL1 variants, NM_004826 c.110_155del46 (p.F37Cfs∗151) and c.633G>C (p.W211C). Case 2 continued to term. However, the infant developed breathing problems and severe hypotonia after birth, and died at 3 months. Nemaline myopathy was diagnosed with two NEB variants, NM_001271208.1 c.3255+1G>T and c.7165delA (p.W211C) detected in the patient.

The first trimester ultrasound can detect clues that lead to the diagnosis of fetal akinesias presenting with reduced or absent fetal movements. Our results would be useful in counselling parents of affected pregnancies and in alerting physicians to plan the appropriate follow-up investigations for such cases.

The first trimester ultrasound can detect clues that lead to the diagnosis of fetal akinesias presenting with reduced or absent fetal movements. Our results would be useful in counselling parents of affected pregnancies and in alerting physicians to plan the appropriate follow-up investigations for such cases.

To diagnose the ring chromosome 13 (r(13)) in a fetus, and analyze the genotype-phenotype correlation.

A 26-year-old woman who was second pregnancy, underwent amniocentesis at 18 weeks of gestation because of the increased nuchal translucency (NT). Prenatal ultrasound showed the NT thickness was 3.5mm at 12

weeks of gestation and nuchal fold (NF) was 6.1mm at 18 weeks of gestation, and amniotic fluid karyotype analysis revealed mosaic r(13). Fezolinetant in vitro CMA detected a 16.293Mb duplication at 13q21.32q31.1 and 31.303Mb deletion at 13q31.1q34.

R(13) is a very rare chromosomal abnormality. Cytogenetic examination combined with CMA can provide accurate diagnosis and effective information for genetic counseling.

R(13) is a very rare chromosomal abnormality. Cytogenetic examination combined with CMA can provide accurate diagnosis and effective information for genetic counseling.

We described a case of fetal cardiac rhabdomyoma complicated by hydrops. And we discussed our approach during pregnancy.

A 23-year-old woman primigravida was referred at 29 weeks of gestation (WG) to prenatal unit for a large hyperechogenic intracardiac mass associated with fetal hydrops. An intrauterine peritoneo-amniotic shunt was placed. Complete regression of ascites and pericardial effusions were observed after 34 WG with drain in good position.

Cardiac rhabdomyoma is the most common prenatal cardiac tumor. These tumors are benign, asymptomatic and spontaneously regress after birth. However, in some cases, these tumors may cause severe obstructions on the fetal heart and need specific treatment.

Cardiac rhabdomyoma is the most common prenatal cardiac tumor. These tumors are benign, asymptomatic and spontaneously regress after birth. However, in some cases, these tumors may cause severe obstructions on the fetal heart and need specific treatment.

We present rapid diagnosis of trisomy 18 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) analysis following tissue culture failure for conventional cytogenetic analysis in a fetus with holoprosencephaly (HPE), ventricular septal defect (VSD), arthrogryposis of bilateral wrists and aplasia of the thumbs.

A 22-year-old, primigravid woman was referred for first-trimester ultrasound screening at 13 weeks of gestation, and the fetus was found to have HPE and VSD. The pregnancy was subsequently terminated at 14 weeks of gestation, and a malformed fetus was delivered with cebocephaly, arthrogryposis of bilateral wrists and aplasia of the thumbs. The umbilical cord and placental tissues were collected for genetic analysis. However, tissue culture failure for conventional cytogenetic analysis occurred because of contamination. QF-PCR analysis using the polymorphic DNA markers of D18S1369 (18q12.2) and D18S1361 (18q22.3) confirmed trisomy 18 of maternal origin.

QF-PCR analysis is useful for rapid confirmation of trisomy 18 and the parental origin when tissue culture failure for conventional cytogenetic analysis occurs in pregnancy suspicious of fetal trisomy 18.

QF-PCR analysis is useful for rapid confirmation of trisomy 18 and the parental origin when tissue culture failure for conventional cytogenetic analysis occurs in pregnancy suspicious of fetal trisomy 18.

We present prenatal diagnosis of mosaicism for double aneuploidy of 47, XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome.

A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an increased risk for Down syndrome in maternal serum screening. Amniocentesis revealed a karyotype of 48,XXY,+7[8]/46,XY[16]. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed the result of arr [GRCh37] (7)×3 [0.54], (X)×2 [0.52], (Y)×1, compatible with trisomy 7 mosaicism and Klinefelter syndrome mosaicism. The parental karyotypes and prenatal ultrasound findings were normal. Repeat amniocentesis performed at 23 weeks of gestation revealed a karyotype of 48,XXY,+7[13]/46,XY[7]. Simultaneous molecular cytogenetic analyses on uncultured amniocytes revealed 30% mosaicism for 48,XXY,+7 by aCGH and 37% (37/100cells) mosaicism for trisomy 7 and disomy X by interphase fluorescence in situ hybridization (FISH) analysis. Polassociated with a favorable fetal outcome. Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes may occur in mosaic 48,XXY,+7 at amniocentesis.

We present prenatal diagnosis of trisomy 11 in a single colony of cultured amniocytes at amniocentesis and the perinatal outcome.

A 36-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+11[1]/46,XX[16]. In 17 colonies of cultured amniocytes, all five cells in one colony had a karyotype of 47,XX,+11, while the rest 16 colonies had a normal karyotype. The parental karyotypes were normal. Repeat amniocentesis was performed at 21 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) was applied on the uncultured amniocytes, and the result revealed 0.9% mosaicism (1/101cells) for trisomy 11 with only one cell with three signals, while the other 100cells had two signals, compared with no trisomy 11 signals (0/100cells) in the normal control. Uniparental disomy (UPD) 11 was excluded by polymorphic DNA marker analysis on the DNAs extracted from uncultured amniocytes and parental bloods.