OBJECTIVE: To explore the genetic basis for a fetus with severe heart defect and mosaic trisomy 12, and the correlation between chromosomal abnormalities and clinical manifestations and pregnancy outcome. METHODS: A 33-year-old pregnant woman who presented at Lianyungang Maternal and Child Health Care Hospital on May 17, 2021 due to abnormal fetal heart development revealed by ultrasonography was selected as the study subject. Clinical data of the fetus were collected. Amniotic fluid sample of the pregnant women was collected and subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). The CNKI, WanFang and PubMed databases were searched with key words, with the retrieval period set as from June 1, 1992 to June 1, 2022. RESULTS: For the 33-year-old pregnant woman, ultrasonography at 22+6 gestational weeks had revealed abnormal fetal heart development and ectopic pulmonary vein drainage. G-banded karyotyping showed that the fetus has a karyotype of mos 47,XX,+12[1]/46,XX[73], with the mosaicism rate being 1.35%. CMA results suggested that about 18% of fetal chromosome 12 was trisomic. A newborn was delivered at 39 weeks of gestation. Follow-up confirmed severe congenital heart disease, small head circumference, low-set ears and auricular deformity. The infant had died 3 months later. The database search has retrieved 9 reports. Literature review suggested that the liveborn infants with mosaic trisomy 12 had diverse clinical manifestations depending on the affected organs, which had included congenital heart disease and/or other organs and facial dysmorphisms, resulting in adverse pregnancy outcomes. CONCLUSION Trisomy 12 mosaicism is an important factor for severe heart defects. The results of ultrasound examination have important value for evaluating the prognosis of the affected fetuses.
Infant, Newborn ; Child ; Pregnancy ; Female ; Humans ; Adult ; Trisomy/genetics* ; Amniocentesis/methods* ; Chromosome Disorders ; Mosaicism ; Fetus ; Heart Defects, Congenital/genetics*

OBJECTIVETo explore the reason for discordant results of karyotyping and microarray analysis in a fetus with mosaic tetrasomy 9p.

METHODSAmniocentesis was carried out for a pregnant woman with advanced age for whom ultrasound scan has indicated fetal ventricular expansion, intrauterine growth retardation and persistent upper venous cavity. G-banded karyotyping and single nucleotide polymorphism-based arrays (SNP-array) analysis were performed at the same time.

RESULTSAnalysis of amniocytic chromosome has suggested mosaic tetrasomy 9p (47,XX,+psu idic(9)(q21)[23]/46,XX[27]). While SNP-array has detected a non-mosaic trisomy 9p with a 68.7 Mb duplication at 9p24.3q21.11. The results of the two methods were therefore discordant.

CONCLUSIONSNP-array will analyze genetic material in the form of numbers rather than morphology. For chimeras containing two types of cell lines, when the mosaic rate was close to 50% and the average amount of genetic material of the chimeras was equivalent to the amount of genetic material of non-chimeras, microarray analysis may come to the conclusion of a non-mosaic heteroploidy. Therefore, microarray results for large segment chromosome abnormalities should be combined with the results of G-banded karyotyping for genetic counseling.

Adult ; Amniocentesis ; methods ; Aneuploidy ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; genetics ; Chromosomes, Human, Pair 9 ; Diagnostic Errors ; Female ; Fetal Growth Retardation ; diagnosis ; genetics ; Humans ; Infant, Newborn ; Karyotyping ; Male ; Mosaicism ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Pregnancy Outcome ; Trisomy

OBJECTIVETo compare the results of fluorescence in situ hybridization (FISH) assay and conventional karyotyping analysis for the detection of chromosomal aneuploidies.

METHODSIn total 2607 amniotic fluid samples were subjected to an improved FISH technique. Meanwhile, karyotype analysis was also ordered for each sample.

RESULTSOf the 2607 samples, 62 abnormalities were identified by FISH, which included 62 cases of trisomy 21, 5 cases of 45,X, 12 cases of trisomy 18, 3 cases of trisomy 13, and 1 case of 47, XYY. Conventional karyotyping analysis has identified 63 cases of trisomy 21, 5 cases of 45,X, 12 cases of trisomy 18, 3 cases of trisomy 13, 1 case of 47, XYY, and 57 cases of balanced translocations. The success rate of FISH detection was 98.4% for trisomy 21, and 100% for 45,X, trisomy 18 and trisomy 13.

CONCLUSIONFor the detection of chromosomal aneuploidies, FISH assay is quick, simple, accurate and can reduce workload when aminocyte culture has failed. As an auxiliary method for amniocytic analysis, it can provide reference for the consultation of those with advanced age and high pregnancy risk.

Adult ; Amniocentesis ; methods ; Amniotic Fluid ; cytology ; metabolism ; Chromosomes, Human, Pair 18 ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; Chromosomes, Human, Y ; genetics ; Down Syndrome ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotype ; Karyotyping ; methods ; Middle Aged ; Pregnancy ; Reproducibility of Results ; Sensitivity and Specificity ; Sex Chromosome Aberrations ; Trisomy ; genetics ; Trisomy 18 Syndrome ; Turner Syndrome ; genetics ; Young Adult

OBJECTIVETo assess the safety of repeated invasive prenatal diagnosis primarily due to failed culture of amniotic cells.

METHODSBetween January 2000 and October 2012, 167 cases required repeated invasive prenatal diagnosis among a total of 5304 amniocentesis cases. Clinical outcome and karyotypes were analyzed to calculate the rate of fetal loss.

RESULTSFor the 167 re-sampled cases, the indications have included failed amniocyte culture (121 cases), chromosome mosaicisms (23 cases), failed amniocentesis (21 cases), and request for confirmation (2 cases). No fetal loss has occurred. All samples were cultured successfully. Fourteen cases (8.38%) have been found with an abnormal karyotype. Four mosaic trisomic cases (2 mosaic trisomy 16, 1 mosaic trisomy 20, and 1 mosaic trisomy 8) were verified to be normal.

CONCLUSIONRepeated invasive prenatal diagnosis does not increase the rate of fetal loss. It can be recommended to cases with failed amniocyte culture. Caution should be undertaken when counseling prenatally detected mosaicism trisomies.

Adult ; Amniocentesis ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Karyotyping ; methods ; Middle Aged ; Pregnancy ; Prenatal Diagnosis ; methods ; Trisomy ; Young Adult

OBJECTIVE: To evaluate the safety, effectiveness and complications of serial invasive prenatal diagnostic techniques, and to investigate the prenatal diagnosis indication as well as to analyze the abnormal chromosomal karyotype. METHODS: We retrospectively studied all patients from March 2005 to May 2012 who received amniocentesis and cordocentesis in the prenatal diagnosis center of Second Xiangya Hospital. The indication of the procedure, successful rate and complications were evaluated, and 25 abnormal chromosome nuclear types were analyzed. RESULTS: A total of 669 patients received invasive prenatal diagnosis from March 2005 to May 2012 in Second Xiangya Hospital: 598 received amniocentesis and 71 cordocentesis carried out. Compared with the cordocentesis group, the amniocentesis group had higher achievement ratio (91.54% vs 100%, P<0.05), lower spontaneous abortion rate (1.41% vs 0.33%, P<0.05), fewer abnormal karyotypes (11.27% vs 2.84%, P<0.05) and lower expenditure (880 yuan vs 800 yuan, P<0.05). Positive screening, advanced maternal age, and ultrasonography abnormality were the top 3 indications of amniocentesis and cordocentesis. We found 25 abnormal karyotypes, including 6 cases of trisomy 21, 4 sex chromosomal abnormalities, 7 autosomal balanced translocations, 1 marker chromosome, and 7 mosaics. CONCLUSION As a widely used invasive prenatal diagnosis, amniocentesis is safe and effective. The complications of cordocentesis are much higher than those of amniocentesis, which is not a proper routine procedure for prenatal diagnosis of abnormal karyotype. The analysis of karyotype not only can identify fetal chromosome abnormality, but also provide the scientific basis for pregnancy continuation, thus reducing the ratio of birth defect.
Abnormal Karyotype ; statistics & numerical data ; Adult ; Amniocentesis ; methods ; Cordocentesis ; adverse effects ; methods ; Evaluation Studies as Topic ; Female ; Humans ; Karyotyping ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; Retrospective Studies

OBJECTIVETo determine the feasibility and accuracy of detecting numerical chromosomal abnormalities by high-flux sequencing analysis of free fetal DNA from maternal plasma.

METHODSHigh-flux sequencing was applied to analyze fetal chromosome sequence copy numbers in 153 pregnant women. Fetal karyotyping was also carried out on amniocentesis samples.

RESULTSSix cases were detected with fetal chromosomal abnormalities by high-flux sequencing analysis, among which five were confirmed by karyotyping to be chromosomal aneuploidies (47,XYY; 45,X; 47,XY,+18; 47,XY,+21 and 47,XY,+13), 1 case was confirmed to be structural rearrangement, i.e., 46,XY,der(13;21)(q10;q10),+21. Furthermore, 3 chromosomal polymorphisms (one 46,XY,21p+ and two 46,XY,Yqh-) were identified. The two methods yielded similar results on fetal chromosome copy number detection.

CONCLUSIONHigh-flux sequencing analysis of free DNA derived from maternal plasma is efficient for detecting fetal chromosomal aneuploidies, and is non-invasive, highly sensitive and specific. It therefore has a broad application in antenatal diagnosis.

Adult ; Amniocentesis ; methods ; Aneuploidy ; Chromosome Disorders ; diagnosis ; genetics ; DNA ; chemistry ; genetics ; Female ; Fetus ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Young Adult

OBJECTIVETo analyze the aberrant der(X) chromosome using conventional and molecular cytogenetic approaches in a fetus of second trimester and to discuss its clinical effect.

METHODSConventional cytogenetic procedures (GTG and CBG banding) were performed on cultured amniotic fluid cells. Three-color fluorescence in situ hybridization (FISH) consisting of X chromosome enumeration probes(CEPX), CEPY and Tel Xp/Yp was further performed to study the aberrant der(X) chromosome.

RESULTSDer(X) was a rare X/Y translocation. The final karyotypes of the fetus was designated as: 46,X,der(X)t(X;Y)(p22.3;q11.2). ish der(X)t(X;Y)(p22.3;q11.2)(X/Ypter-, DXZ1+, DYZ1+)mat.

CONCLUSIONThe combination of FISH and conventional cytogenetic techniques is a powerful tool to determine derivative chromosome and to offer an accurate genetic counseling. Identification of Xp; Yq rearrangement can help estimate the risk of fetus abnormalities and give a more precise prognosis.

Adult ; Amniocentesis ; methods ; Amniotic Fluid ; cytology ; Chromosome Aberrations ; Chromosome Banding ; methods ; Chromosomes, Human, X ; Cytogenetic Analysis ; methods ; Female ; Fetus ; abnormalities ; Genetic Counseling ; methods ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Pregnancy ; Pregnancy Trimester, Second

We report a case of prenatally diagnosed congenital perineal mass which was combined with anorectal malformation. The mass was successfully treated with posterior sagittal anorectoplasty postnatally. On ultrasound examination at a gestational age of 23 weeks the fetal perineal mass were found on the right side. Any other defects were not visible on ultrasonography during whole gestation. Amniocentesis was performed to evaluate the fetal karyotyping and acetylcholinesterase which were also normal. As the fetus grew up, the mass size was slowly increased more and more. At birth, a female neonate had a perineal mass on the right side as expected. During operation, the anal sphincteric displacement was found near the mass and reconstructed through posterior sagittal incision. This is the first reported case of prenatally diagnosed congenital perineal mass, after birth which was diagnosed as lipoblastoma and even combined with anorectal malformation. This case shows that it can be of clinical importance to be aware of this rare fetal perineal mass in prenatal diagnosis and counseling.
Adult ; Amniocentesis ; *Anal Canal/abnormalities/pathology/ultrasonography ; *Digestive System Abnormalities/diagnosis/pathology/ultrasonography ; Female ; Gestational Age ; Humans ; Infant, Newborn ; *Lipoma/diagnosis/pathology/ultrasonography ; Male ; *Perineum/pathology/ultrasonography ; Pregnancy ; Prenatal Diagnosis ; *Rectal Neoplasms/diagnosis/pathology/ultrasonography ; *Rectum/abnormalities/pathology/ultrasonography ; Ultrasonography, Prenatal/*methods

OBJECTIVETo optimize the prenatal diagnosis platform by using domestically made fluorescence in situ hybridization(FISH) kit and to explore the clinical application of FISH to rapid prenatal diagnosis of a wide range of chromosomal abnormalities.

METHODSAmniotic fluid samples from 110 pregnant women were studied with the rapid prenatal diagnosis method of FISH and the conventional cell culture method of karyotyping, the results from both methods were compared.

RESULTSFour cases of trisomy 21, 1 case of trisomy 18, 58 cases of 46, XX, and 47 cases of 46, XY were detected by FISH in the 110 amniotic fluid samples. It is concordant with the results from conventional karyotype analysis. The concordance rate is 100%.

CONCLUSIONDomestically made FISH kit can be used to rapidly and accurately detect the most common chromosome aneuploidies by using less sample volume while the price is relatively low. FISH can be a reliable and rapid prenatal diagnostic tool as an adjunct to classical cytogenetic study. It can be used for rapid and accurate prenatal diagnosis of women with high risk of maternal serum screening.

Adult ; Amniocentesis ; Amniotic Fluid ; Aneuploidy ; Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; genetics ; Down Syndrome ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; methods ; Nucleic Acid Hybridization ; Pregnancy ; Prenatal Diagnosis ; methods ; Trisomy

OBJECTIVETo investigate the genetic abnormalities of fetuses with congenital heart diseases (CHD), and to provide guidance for the management of pregnancy and genetic counseling.

METHODSEighty-one fetuses with CHD detected by fetal echocardiography were analyzed by karyotyping after amniocentesis, cordocentesis or chorionic sampling. Then 22q11.2 deletion/duplication was detected by a competitive fluorescent multiplex short tandem repeat assay in 47 CHD fetuses without chromosomal abnormalities. With fluorescence in situ hybridization (FISH) using LSI dual color DNA probe, the deletion/duplication status was confirmed.

RESULTSThirty-four of 81 CHD fetuses had chromosomal anomalies, and 1 of the 47 CHD fetuses without chromosomal anomalies had duplication at chromosome 22q11. The incidence of aneuploidy associated CHD was 43.2%. The rate of chromosomal anomalies is higher in the cases associated with extra-cardiac anomalies than in that with isolated CHD (64.5% versus 28.0%). In the 35 fetuses with chromosomal abnormalities, 19 (54.3%) were trisomy 18.

CONCLUSIONChromosomal abnormalities occurred in 43.2% of CHD cases and trisomy 18 is the most common aneuploidy. The likelihood of chromosomal anomaly increases when there is extracardiac involvement. Testing for the 22q11.2 microdeletion/duplication is recommended in all CHD fetuses without chromosomal anomalies. It is important for the further management of pregnancy and genetic counseling.

Adult ; Amniocentesis ; methods ; Chromosome Aberrations ; chemically induced ; classification ; Female ; Fetal Development ; genetics ; Gestational Age ; Heart Defects, Congenital ; diagnostic imaging ; genetics ; Humans ; Karyotyping ; Pregnancy ; Trisomy ; physiopathology ; Ultrasonography, Prenatal