Twin to twin transfusion syndrome (TTTS) is one of the major complication of monochorionic twin pregnancy which is mainly understood by placental vascular anastomosis. Perinatal mortality and morbidity is high as 80-100% if untreated and even higher if the disease is developed at early stage. Variety of methods of isolating or intercepting placental vascular anastomosis are introduced, but they are only available in centers where all the required equipments are prepared. We report here a case of TTTS complicated with severe polyhydroamnios during the second trimester. The blood supply to donor twin was interrupted successfully at 19+2 weeks of gestation by minimally invasive radio-frequency cord ablation, under ultrasound guidance. The normal recipient twin was delivered successfully at 35 weeks of gestation and had no eventful neonatal course.
Abortion, Eugenic/*methods ; Adult ; *Catheter Ablation ; Female ; Fetofetal Transfusion/*diagnosis/ultrasonography ; Gestational Age ; Humans ; Pregnancy ; Twins ; Twins, Monozygotic

Twin to twin transfusion syndrome (TTTS) is one of the major complication of monochorionic twin pregnancy which is mainly understood by placental vascular anastomosis. Perinatal mortality and morbidity is high as 80-100% if untreated and even higher if the disease is developed at early stage. Variety of methods of isolating or intercepting placental vascular anastomosis are introduced, but they are only available in centers where all the required equipments are prepared. We report here a case of TTTS complicated with severe polyhydroamnios during the second trimester. The blood supply to donor twin was interrupted successfully at 19+2 weeks of gestation by minimally invasive radio-frequency cord ablation, under ultrasound guidance. The normal recipient twin was delivered successfully at 35 weeks of gestation and had no eventful neonatal course.
Abortion, Eugenic/*methods ; Adult ; *Catheter Ablation ; Female ; Fetofetal Transfusion/*diagnosis/ultrasonography ; Gestational Age ; Humans ; Pregnancy ; Twins ; Twins, Monozygotic

We report the imaging findings in a case of fetal lymphangioma involving the retroperitoneum and right lower extremity, and diagnosed by ultrasonography and magnetic resonance (MR) imaging at 26 weeks of gestation. Prenatal ultrasonograms and T2-weighted single-shot fast spin-echo MR images clearly revealed an extensive, multilocular cystic mass with internal hemorrhage in the retroperitoneum extending to the lower extremity.
Abortion, Eugenic ; Adult ; Female ; Fetal Diseases/*pathology/*ultrasonography ; Human ; Lower Extremity/pathology/ultrasonography ; Lymphangioma/*pathology/*ultrasonography ; Magnetic Resonance Imaging/*methods ; Pregnancy ; Retroperitoneal Space/pathology/ultrasonography ; Ultrasonography, Prenatal

OBJECTIVETo conduct genetic testing and prenatal diagnosis for a pregnant women with growth retardation, severe mental retardation, and a history of adverse pregnancies.

METHODSG-banded chromosome analysis, fluorescence in situ hybridization (FISH), and whole genome DNA microarray were used to analyze the patient and her fetus.

RESULTSThe women was found to be a chimera containing two cell lines with 47 and 46 chromosomes, respectively. Both have involved deletion of 18q21.2q23. FISH analysis suggested that the cell line containing 47 chromosomes has harbored a chromosome marker derived from chromosome 15. The marker has contained chromosome 15p involving the SNRPN locus and part of 15q, which gave rise to a karyotype of 47,XX,del18q21.3,+ish mar D15Z1+ SNRPN+[82]/46,XX,del18q21.3[18]. Whole genome DNA microarray confirmed that a 3.044 Mb fragment from 15q11.2q12 was duplicated, which involved NIPA1, SNRPN and other 17 OMIM genes. Duplication of this region has been characterized by low mental retardation, autism, developmental delay. Meanwhile, there was a 17.992 Mb deletion at 18q21.33q23, which contained 39 OMIM genes including TNFRSF11A and PHLPP1. This fragment was characterized by mental retardation, developmental delay, short stature, and cleft palate. Whole genome microarray analysis confirmed that there was a 17.9 Mb deletion at 18q21.33q23, which has been implemented with mental retardation, general growth retardation, short stature, and cleft palate. After genetic counseling, the family decided to terminate the pregnancy at 21st week.

CONCLUSIONCombined chromosome karyotyping, FISH, and whole genome DNA microarray can determine the origin of marker chromosomes and facilitate delineation of its correlation with the clinical phenotype.

Abortion, Eugenic ; Adult ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Fatal Outcome ; Female ; Fetus ; abnormalities ; metabolism ; Growth Disorders ; embryology ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; embryology ; genetics ; Karyotype ; Karyotyping ; Prenatal Diagnosis ; methods

OBJECTIVETo analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).

METHODSGenomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software.

RESULTSCompound heterozygous mutations of c.11314C>T (p.Arg3772*) and a novel missense c.889T>A (p.Cys297Ser) of the PKHD1 gene were identified in the fetus. The mother was found to have carried the c.11314C>T mutation, while the father was found to have carried the c.889T>A mutation. PolyPhen-2 and SIFT predicted that the c.889T>A mutation is probably damaging.

CONCLUSIONA novel mutation in PKHD1 gene was detected in our ARPKD family. Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis for the fetus affected with ARPKD, which has facilitated genetic counseling and implement of prenatal diagnosis for the family.

Abortion, Eugenic ; Adult ; Amino Acid Sequence ; Base Sequence ; DNA Mutational Analysis ; Family Health ; Fatal Outcome ; Female ; Fetal Diseases ; diagnostic imaging ; genetics ; Fetus ; abnormalities ; metabolism ; Humans ; Male ; Mutation ; Polycystic Kidney, Autosomal Recessive ; diagnostic imaging ; embryology ; genetics ; Pregnancy ; Receptors, Cell Surface ; genetics ; Sequence Homology, Amino Acid ; Ultrasonography, Prenatal ; methods

OBJECTIVETo investigate the genetic cause and prognosis of a fetus with a rare karyotype.

METHODSFluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus.

RESULTSThe fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3. Whole genome DNA microarray confirmed that there was a 17.87 Mb duplication in the 21q21.3q22.3 region, which involved GATA1, JAK2 and ALL genes and spanned the Down syndrome region. The genes are implicated in craniofacial abnormalities, cardiac abnormalities, mental retardation, growth retardation, limb abnormalities. In addition, there was also an 8.43 Mb deletion in the 4p16.1p16.3 region, which involved FGFR3, LETM1, WHSC1 and WHSC2 and other 64 OMIM genes and spanned the Wolf-Hirschhorn syndrome region. The genes are implicated in growth retardation, craniofacial abnormalities, cardiac abnormalities, mental retardation, and hypotonia. After consultation, the family chose to terminate the pregnancy at 25th week of gestation.

CONCLUSIONFISH can help to verify structural chromosome abnormalities suspected by conventional karyotyping analysis. Combined with whole genome microarray, these can determine copy number variation and its region containing the disease genes, and facilitate clinical analysis of the fetus.

Abortion, Eugenic ; Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders ; diagnosis ; genetics ; Chromosome Duplication ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Counseling ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; methods