We present prenatal diagnosis and management of monozygotic (MZ) twins discordant for severe fetal abnormalities.
 
  A 36-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, and hydrops fetalis, a giant cystic hygroma of 5×3.5cm and left hydronephrosis in a co-twin. The other co-twin was structurally normal. Amniocentesis revealed a karyotype of 46,XY in both co-twins. Simultaneous polymorphic DNA marker analysis using the DNAs extracted from maternal blood and uncultured amniocytes confirmed MZ twinning. The woman underwent a successful selective fetal reduction by radiofrequency ablation at 22 weeks of gestation. At 28 weeks of gestation, premature rupture of membranes occurred, and a 1280-g normal male baby and a 275-g dead malformed co-twin were delivered. The normal co-twin was phenotypically normal and was doing well at age seven weeks.
 
  Prenatal diagnosis of MZ twins discordant for structural abnormalities should include a differential diagnosis of MZ twinning, and a zygosity test is necessary under such a circumstance.
 Prenatal diagnosis of MZ twins discordant for structural abnormalities should include a differential diagnosis of MZ twinning, and a zygosity test is necessary under such a circumstance.
  We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia.
 
  A 27-year-old woman underwent amniocentesis at 18 weeks of gestation because of club hands on fetal ultrasound. The internal organs of the fetus were normal. Amniocentesis revealed a karyotype of 47,XY,+mar [13]/46,XY [11]. The parental karyotypes were normal. Simultaneous array comparative genomic hybridization (aCGH) analysis of the DNA extracted from uncultured amniocytes revealed the result of arr 2q11.1q12.1 (95,529,039-102,825,556)×3.0 [GRCh37 (hg19)]. The pregnancy was terminated at 20 weeks of gestation, and a malformed fetus was delivered with isolated bilateral radial dysplasia. The cord blood had a karyotype of 47,XY,+mar[24]/46,XY[16]. Polymorphic DNA marker analysis of the DNAs extracted from umbilical cord and parental bloods excluded uniparental disomy for chromosome 2. Metaphase fluorescence in situ hybridization analysis confirmed an sSMC derived from chromosome 2q11.1-q12.1 in cultured amniocytes.
 
  High-level mosaicism for an sSMC derived from chromosome 2q11.1-q12.1 can be associated with fetal abnormalities.
 High-level mosaicism for an sSMC derived from chromosome 2q11.1-q12.1 can be associated with fetal abnormalities.
  We present prenatal diagnosis of maternal uniparental disomy (UPD) 5 by amniocentesis associated with confined placental mosaicism (CPM) for trisomy 5 and fetal trisomy 21 in a pregnancy.
 
  A 45-year-old woman underwent chorionic villus sampling (CVS) at 11 weeks of gestation because of maternal advanced age and an increased nuchal translucency of 4.0mm in the first-trimester screening. CVS revealed a karyotype of 47,XY,+21[98]/48,XY,+5,+21[25]. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from chorionic villi revealed arr (5)×3, arr (21)×3 compatible with double trisomy 5 and trisomy 21. The woman underwent amniocenteses at 20 weeks and 22 weeks of gestation. Amniocenteses revealed a karyotype of 47,XY,+21. The parental karyotypes were normal. Quantitative fluorescent polymerase chain reaction (QF-PCR) on the DNA extracted from uncultured amniocytes showed trisomy 21 of maternal origin and maternal UPD 5. aCGH and interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes confirmed trisomy 21. Prenatal ultrasound findings were unremarkable.  https://www.selleckchem.com/  The parents decided to continue the pregnancy, and a 2,198-g male baby was delivered at 38 weeks of gestation with characteristic phenotype of Down syndrome of hypertelorism, epicanthic folds and hypoplastic middle phalanx of the fifth fingers. Cytogenetic analysis of cord blood, umbilical cord and placenta revealed a karyotype of 47,XY,+21. QF-PCR analysis of the DNA extracted from placenta revealed double trisomy 5 and trisomy 21 with maternal gene dosage increase in chromosome 5 and chromosome 21.
 
  Prenatal diagnosis of CPM for trisomy 5at CVS can be associated with UPD 5 in the fetus, and UPD 5 causes no specific phenotype.
 Prenatal diagnosis of CPM for trisomy 5 at CVS can be associated with UPD 5 in the fetus, and UPD 5 causes no specific phenotype.
  We present low-level mosaic trisomy 13at amniocentesis associated with a favorable outcome in a pregnancy.
 
  A 39-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+13[8]/46,XY[20]. The woman underwent cord blood sampling at 22 weeks of gestation. Cytogenetic analysis of cord blood revealed a karyotype of 47,XY,+13[2]/46,XY[98]. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cord blood revealed 10% gene dosage increase in chromosome 13. Prenatal ultrasound findings were unremarkable. After genetic counseling, the parents decided to continue the pregnancy, and a 2,280-g healthy male baby was delivered at 38 weeks of gestation. The parental karyotypes were normal. The cord blood at birth had a karyotype of 47,XY,+13[1]/46,XY[49]. At age one month, interphase fluorescence in situ hybridization (FISH) analysis revealed no trisomy 13 signals in 100/100 buccal mucosal cells, and trisomy 13 signals in 2/54 (3.7%) urinary cells compared with 0/60cells in the normal control. The neonate was doing well and presented neither phenotypic abnormalities nor psychomotor disorders at age two months.
 
  Low-level true mosaic trisomy 13at amniocentesis without ultrasound abnormalities can be associated with a favorable outcome.
 Low-level true mosaic trisomy 13 at amniocentesis without ultrasound abnormalities can be associated with a favorable outcome.
  Diabetic women have different reproductive problems. In pregnant diabetic women, high rates of perinatal mortality, spontaneous abortion and congenital anomalies are observed. We hypothesized that quercetin, as an antidiabetic and phytoestrogen, might have protective effects on the embryo implantation in pregnant diabetic mice. We investigated the ameliorative effects of quercetin on the levels of serum estrogen and progesterone, rate of blastocyst implantation, and uterine receptivity markers in diabetic mice.
 
  Diabetic and healthy female mice were treated with quercetin (30mg/kg/day) four weeks before pregnancy. Plasma sex-steroid levels were determined on day 4 of pregnancy. Also, uteri were harvested for investigation of protein and mRNA expression changes. In another set of our study, implantation rate was determined on day 5 of pregnancy.
 
  Our results indicated that quercetin was significantly reduced blood glucose levels in diabetic mice. The number of implantation sites as well as serum estradiol level was reduced in diabetic mice, and then treatment with quercetin significantly increased both.