Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on prenatal diagnosis and follow up of two patients with paternal uniparental disomy of chromosome 6 (pUPD6).</p><p><b>METHODS</b>Fetal cells were subjected to in situ culturing and G-banded chromosomal analysis. DNA samples of the fetuses and their parents were also analyzed with single nucleotide polymorphism microarray (SNP array).</p><p><b>RESULTS</b>Both fetuses had a normal male karyotype. SNP array analysis showed both have carried pUPD6.</p><p><b>CONCLUSION</b>pUPD6 can lead to transient neonatal diabetes mellitus type 1. Homozygous status of recessive mutations, disorder of gene imprinting, and its influence on placental function are the main factors to be considered during prenatal diagnosis and genetic counseling for pUPD6.</p>

Prognosis and diagnosis of fetal cardiac rhabdomyomas / 中华围产医学杂志

Objective To improve the awareness of fetal cardiac rhabdomyomas (CRs) and investigate a better model for prenatal diagnosis and treatment through analyzing imaging findings and prognosis.Methods A retrospective study was conducted on 23 cases of CRs which were diagnosed by ultrasound in Obstetrics and Gynecology Hospital of Fudan University from January 2008 to November 2015.General conditions,imaging features,prognosis and follow-up data of the 23 cases were described.Results The average gestational age of the 23 fetuses at diagnosis was (29.8±4.1) (22.4-35.7) weeks.Seventeen out of the 23 gravidas received prenatal multidisciplinary consultation.Among all 23 gravidas,three (13％) were lost to follow-up,12 (52％) decided to terminate the pregnancy,and the other eight (35％) continued to term pregnancy and their babies were followed up for three years.Of these eight cases,two cases received prenatal brain MRI and no tuberous sclerosis complex (TSC) was detected,no CRs was identified during the follow-up,and their physical and mental developments were both normal.One case was diagnosed with suspected subependymal nodules by prenatal brain MRI in our hospital,but the MRI images was normal when scanned in the other hospital,and follow-up data revealed neither CRs nor abnormal physical and mental developments.Four cases did not received prenatal brain MRI,but the MRI images of neonatal brains indicated TSC,besides,follow-up data showed that seizures were observed,physical developments were all normal,but three of the four cases had mental retardation;CRs disappeared in only two of the four cases.One case had neither prenatal nor neonatal MRI,but follow-up data showed that CRs had disappeared and physical and mental developments were both normal.Conclusions Prenatal diagnosis of fetal tuberous sclerosis is crucial to the prognosis of CRs.Prenatal ultrasonography in combination with cranial MRI improves the accuracy of prenatal diagnosis of CRs complicated with TSC and assists in clinical decision-making and prognosis analysis.

Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester / 中华妇产科杂志

ObjectiveTo investigate the karyotypes of amiotic fluid cells and compare the incidence of chromosomal abnormality as well as to evaluate the clinical significance of abnormal karyotypes. MethodsA total of 13 648 pregnant women came to Shanghai Jiai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fuclan University to do amniocentesis from September 1998 to November 2010, and 13 795 amniotic fluid specimens were successfully extracted and cultured, thus 13 795 fetuses received karyotype diagnosis. These fetuses were grouped according to different indications. If maternal age was ≥ 35, the fetuses were grouped into the advanced maternal age group (4065) ; and if maternal serum screening test revealed high-risk of trisomy 18 or trisomy 21, the fetuses were grouped into the high-risk serum screening group (6462) ; and those with abnormal signs of ultrasound screening were grouped into the abnormal ultrasound signs group (1539); and if either of the parents was with chromosome abnormalities, the fetus was grouped into the paternal/maternal abnormality group ( 108 ) ; whereas the remainder were grouped in other factors group ( 1621 ). The amniotic fluid cells were in-situ cultured on coverslips, harvested by conventional G-banded methods, and then analyzed by two doctors. In order to get rapid diagnosis, some pregnant women whose gestational age ≥26 weeks accepted fluorescense in situ hybridization (FISH). FISH was done on 78 uncultured amniotic fluid specimens using probes located at chromosome 13,18,21, X,Y. Some parents were required to analyze lymphocyte karyotype to help judging the origin of abnormal karyotype. Results( 1 ) Classification and composition of abnormal karyotypes in each group : a total of 388 abnormal karyotypes were found among 13 795 fetuses, and the abnormal rate was 2. 813％ (388/13 795).Of the 388 fetuses, aneuploidy was the most common pattern which was up to 59. 8％(232/388);autosomal structural abnormality rate was 24. 7％ ( 96/388 ) ; mosaicism was 12.4％ (48/388). Other uncommon abnormal karyotypes included marker chromosome (5/388,1.3％), sex chromosomal structural abnormality (4/388,1.0％) and triploid (3/388, 0. 8％ ). Aneuploidy was the most common in most groups except the patemal/matemal abnormality group. There were four cases of rare aneuploid in the advanced maternal age group,the high-risk serum screening group and the abnormal ultrasound signs group respectively. Every type of abnormality could be found in the abnormal ultrasound signs group, and autosomal structural abnormalities were concentratedin paternal/maternalabnormality group. Mosaicism mainly distributed in the high-risk serum screening group, accounting for 20. 0％ (29/145) of abnormalities in this group. (2) Abnormal types and the incidence: the most common type was trisomy 21 ( 138/388,35.6％ ),followed by autosomal balanced structural rearrangements( 80/388, 20. 6％ ), mosaicism(48/388,12. 4％ )and trisomy 18 (44/388,11.3％ ). Others included non-balanced autosomal structural rearrangements (16/388,4. 1％ ), 45 ,X0 ( 16/388,4. 1％ ) and 47 ,XXY( 15/388,3.9％ ). (3) Lymphocyte karyotype analysis of the couples: parents of 153 fetuses were analyzed to determine the origin of abnormal karyotype. Fifty-eight familial and 95 de novo abnormalities were found. FISH results were the same with G-banding karyotype, and two of these were trisomy 21. Conclusions Abnormal karyotype composition is different according to different maternal amniocentisis indications. There is a variety of abnormal karyotypes in the second trimester pregnancy, and the risk of fetal malformation is related with the kind of abnormal karyotype.