OBJECTIVE: To assess the value of using flat-sided culture tubes for preparing chromosomes through chorionic villi (CV) and amniotic fluid (AF) cell cultures during prenatal diagnosis. METHODS: From February to March 2020, 157 CV samples and 147 AF samples subjected to prenatal diagnosis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region were selected as the study subjects. For each sample, one flat-sided tube and one flask culture were set up by following the standard protocols. The methods were evaluated by comparing the cell growth, experimental process, quality of chromosome preparation and costs. RESULTS: The success rates for the culturing of CV and AF samples by the flat-sided culture tube method were 97.45% (153/157) and 97.96% (144/147), respectively. By contrast, the success rates for the conventional flask method were 98.72% (155/157) for CV and 98.64% (145/147) for AF samples. No significant difference was found between the two methods (P > 0.05). The average harvest time required by the flat-sided culture tube method was 8.45 days for CV and 9.43 days for AF cultures, whilst the average harvest time for conventional flask method was 9.05 days and 9.54 days, respectively. The flat-sided culture tube method for CV had required significantly shorter average harvest time than the conventional method (P < 0.001). No statistical significant difference was found in the average harvest time for AF by the two methods (P > 0.05). The conventional culturing method had required three containers with two sample transfers. By contrast, the flat-sided culture tube method was carried out in one tube without any sample transfer. The average total amount of medium used was 3.91 mL for each flat-sided culture tube and 6.26 mL for each conventional flask. CONCLUSION The flat-sided culture tube method can provide a simple, cost-effective and error-reducing procedure for the CV and AF samples culture during prenatal diagnosis.
Child ; Female ; Pregnancy ; Humans ; China ; Prenatal Diagnosis ; Chorionic Villi Sampling ; Amniotic Fluid ; Cell Proliferation

BACKGROUND: Under certain situations, women with twin pregnancies may be counseled to undergo invasive prenatal diagnostic testing. Chorionic villus sampling and amniocentesis are the two generally performed invasive prenatal diagnostic tests. Studies comparing procedure-related fetal loss between first-trimester chorionic villus sampling and second-trimester amniocentesis in twin pregnancies are limited. This study aimed to evaluate the procedure-related fetal loss and the obstetrical outcomes of these two procedures, chorionic villus sampling and amniocentesis in twin pregnancies. METHODS: The data from dichorionic-diamniotic twin pregnancies on which first-trimester chorionic villus sampling (n = 54) or second-trimester amniocentesis (n = 170) was performed between December 2006 and January 2017 in a single center were retrospectively analyzed. The procedure-related fetal loss was classified as loss of one or all fetuses within 4 weeks of procedure, and overall fetal loss was classified as loss of one or all fetuses during the gestation. The groups were compared with respect to the procedure-related and obstetrical outcomes. RESULTS: The difference in proportion of procedure-related fetal loss rate (1.9% for chorionic villus sampling vs. 1.8% for amniocentesis; P = 1.000) and the overall fetal loss rate (7.4% for chorionic villus sampling vs. 4.7% for amniocentesis; P = 0.489) between the two groups was not significant. The mean gestational ages at delivery were not statistically significant. CONCLUSION: Both the overall fetal loss rate and the procedure-related fetal loss rate of chorionic villus sampling and amniocentesis in dichorionic twin pregnancies had no statistical significance. Both procedures can be safely used individually.
Amniocentesis ; Chorion ; Chorionic Villi Sampling ; Chorionic Villi ; Diagnostic Tests, Routine ; Female ; Fetus ; Gestational Age ; Humans ; Pregnancy ; Pregnancy, Twin ; Retrospective Studies ; Twins

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.
Abortion, Induced ; Amniocentesis ; Chorionic Villi Sampling ; Early Diagnosis ; Edema ; Female ; Fetus* ; Humans ; Hydatidiform Mole* ; Karyotyping ; Molar* ; Placenta ; Pregnancy ; Pregnancy, Twin ; Prognosis ; Trophoblasts ; Turner Syndrome* ; Twins ; Ultrasonography ; Ultrasonography, Prenatal

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. RESULTS: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. CONCLUSION: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.
Amniocentesis ; Chorionic Villi Sampling ; Cordocentesis ; Cytogenetic Analysis ; Female ; Fetus ; Genetic Counseling ; Humans ; Mothers ; Parents ; Pregnancy ; Prenatal Diagnosis ; Prognosis ; Translocation, Genetic ; Ultrasonography* ; Ultrasonography, Prenatal

OBJECTIVE: In 2007, the American College of Obstetricians and Gynecologists (ACOG) recommended that all pregnant women be offered screening or diagnostic tests for chromosomal abnormalities regardless of their age. Noninvasive prenatal testing (NIPT) for common chromosomal aneuploidies was introduced as a screening test in case of high-risk pregnancies. We assessed the rates of prenatal tests in women aged 35 years and older. METHODS: A retrospective study was conducted to compare the rates of amniocentesis, chorionic villus sampling (CVS), serum screening, and NIPT from January 2005 through March 2017 in women aged 35 years and older. We divided the initial 12 months after NIPT introduction into 4-month intervals, beginning in April 2016 through March 2017. RESULTS: The rates of amniocentesis were 56% before the ACOG statement, 38% between the ACOG statement and NIPT introduction, and 10% after NIPT introduction (P=0.001). The rates of CVS during the same periods were 0.5%, 2.1%, and 4.3% (P=0.016), respectively. The rates of serum screening were 44.2%, 61.3%, and 55.1% (P=0.049), respectively. During the 3 quarters after NIPT introduction, the rates of amniocentesis were 16.2%, 12.3%, and 7.3% (P=0.002), respectively; the rates of serum screening were 62%, 54%, and 46% (P=0.03), respectively; and the rates of NIPT were 19.9%, 30.3%, and 39.5% (P=0.007), respectively. The rates of CVS over the same periods were not significantly different. CONCLUSION: The ACOG statement and NIPT introduction significantly decreased the rate of amniocentesis in women of advanced maternal age. NIPT also reduced the rate of serum screening.
Amniocentesis ; Aneuploidy ; Chorionic Villi Sampling ; Chromosome Aberrations* ; Diagnostic Tests, Routine ; Female ; Humans ; Mass Screening ; Maternal Age* ; Pregnancy ; Pregnancy, High-Risk ; Pregnant Women ; Prenatal Diagnosis ; Retrospective Studies

OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared. RESULTS: A total of 383 pregnant women underwent QF-PCR and LTC via CVS during the study period and 403 CVS specimens were collected. The indications of CVS were as follows: abnormal first-trimester ultrasonographic findings, including increased fetal nuchal translucency (85.1%), advanced maternal age (6.8%), previous history of fetal anomalies (4.2%), and positive dual test results for trisomy 21 (3.9%). The results of QF-PCR via CVS were as follows: 76 (18.9%) cases were identified as trisomy 21 (36 cases), 18 (33 cases), or 13 (seven cases), and 4 (1.0%) cases were suspected to be mosaicism. All results of common autosomal trisomies by QF-PCR were consistent with those of LTC and there were no false-positive findings. Four cases suspected as mosaicism in QF-PCR were confirmed as non-mosaic trisomies of trisomy 21 (one case) or trisomy 18 (three cases) in LTC. CONCLUSION: QF-PCR via CVS has the advantage of rapid prenatal screening at an earlier stage of pregnancy for common chromosomal trisomies and thus can reduce the anxiety of parents. In particular, it can be helpful for pregnant women with increased fetal nuchal translucency or abnormal first-trimester ultrasonographic findings.
Aneuploidy* ; Anxiety ; Chorion* ; Chorionic Villi Sampling* ; Chorionic Villi* ; Cytogenetic Analysis ; Diagnosis ; Down Syndrome ; Female ; Fluorescence ; Hospitals, General ; Humans ; Maternal Age ; Medical Records ; Mosaicism ; Nuchal Translucency Measurement ; Parents ; Polymerase Chain Reaction* ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis* ; Retrospective Studies ; Trisomy

Recently, noninvasive prenatal test (NIPT) has been adopted as a primary screening tool for fetal chromosomal aneuploidy. The principle of NIPT lies in isolating the fetal fraction of cell-free DNA in maternal plasma and analyzing it with bioinformatic tools to measure the amount of gene from the target chromosome, such as chromosomes 21, 18, and 13. NIPT will contribute to decreasing the need for unnecessary invasive procedures, including amniocentesis and chorionic villi sampling, for confirming fetal aneuploidy because of its higher positive predictive value than that of the conventional prenatal screening method. However, its greater cost than that of the current antenatal screening protocol may be an obstacle to the adoption of this innovative technique in clinical practice. Digital polymerase chain reaction (dPCR) is a novel approach for detecting and quantifying nucleic acid. dPCR provides real-time diagnostic advantages with higher sensitivity, accuracy, and absolute quantification than conventional quantitative PCR. Since the groundbreaking discovery that fetal cell-free nucleic acid exists in maternal plasma was reported, dPCR has been used for the quantification of fetal DNA and for screening for fetal aneuploidy. It has been suggested that dPCR will decrease the cost by targeting specific sequences in the target chromosome, and dPCR-based noninvasive testing will facilitate progress toward the implementation of a noninvasive approach for screening for trisomy 21, 18, and 13. In this review, we highlight the principle of dPCR and discuss its future implications in clinical practice.
Amniocentesis ; Aneuploidy ; Chorionic Villi Sampling ; Chromosome Aberrations ; DNA ; Down Syndrome ; Female ; Mass Screening ; Plasma ; Polymerase Chain Reaction* ; Pregnancy ; Prenatal Diagnosis

Although conventional prenatal screening tests for Down syndrome have been developed over the past 20 years, the positive predictive value of these tests is around 5%. Through these tests, many pregnant women have taken invasive tests including chorionic villi sampling and amniocentesis for confirming Down syndrome. Invasive test carries the risk of fetal loss at a low but significant rate. There is a large amount of evidence that non-invasive prenatal test (NIPT) using cell free DNA in maternal serum is more sensitive and specific than conventional maternal serum and/or ultrasound screening. Therefore implementing NIPT will increase aneuploidy detection rate and concurrently decrease fetal loss rate accompanying invasive test. More than 1,000,000 NIPT were performed globally since 2011. The uptake rate of NIPT is expected to increase more rapidly in the future. Moreover, as a molecular genetic technique advances, NIPT can be used for not only common aneuploidy screening but single gene disorder, microdeletion, and whole fetal genome sequencing. In this review, I will focus on the NIPT for common aneuploidies such as trisomy 13, 18, and 21.
Amniocentesis ; Aneuploidy ; Chorionic Villi Sampling ; DNA* ; Down Syndrome ; Female ; Genome ; Humans ; Mass Screening ; Maternal Serum Screening Tests ; Molecular Biology ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Trisomy ; Ultrasonography

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.
Adult ; Chorionic Villi Sampling ; Cytogenetic Analysis ; Female ; Fetus* ; Fluorescence ; Genetic Counseling ; Humans ; In Situ Hybridization ; Karyotype ; Nuchal Translucency Measurement ; Parents ; Pregnancy ; Prenatal Diagnosis ; Twins ; X Chromosome ; X Chromosome Inactivation ; Y Chromosome

PURPOSE: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and management in our practice. MATERIALS AND METHODS: We retrospectively reviewed the medical records of patients who underwent first trimester fetal karyotyping using chorionic villi sampling (CVS) and second trimester level II sonography for a fetal NT thickness > or =3.0 mm between 11 weeks and 13 weeks 6 days' gestation, at Gyeongsang National University Hospital. Pediatric medical records and a telephone interview were used to follow-up live-born children. Exclusion criteria included incomplete data and CVS for other indications. RESULTS: Seventy cases met the inclusion criteria (median NT thickness, 4.7 mm; range, 3.0-16.1 mm). Twenty-nine cases (41.4%) were aneuploid. The prevalence of chromosomal defects increased with NT thickness: NT 3.0-3.4 mm, 16.7%; NT 3.5-4.4 mm, 27.3%; NT 4.5-5.4 mm, 66.7%; NT 5.5-6.4 mm, 37.5%; NT > or =6.5 mm, 62.5%. The most common karyotype abnormality was trisomy 18 (n=12), followed by trisomy 21 (n=9). In chromosomally normal fetuses (n=41), fetal death occurred in 2 cases (4.9%), and structural malformations were found in 11 cases (26.8%). In chromosomally and anatomically normal fetuses (n=28), one child had neurodevelopmental delay (3.6%). Twenty-eight infants who had a prenatal increased NT were alive and well at follow-up (40%). CONCLUSION: Outcomes of increased fetal NT might help inform prenatal counseling and management. The high prevalence of chromosomal defects associated with increased fetal NT implies that CVS should be performed in the first trimester, particularly considering the stress associated with an uncertain diagnosis.
Aneuploidy ; Child ; Chorionic Villi Sampling* ; Counseling ; Diagnosis ; Down Syndrome ; Female ; Fetal Death ; Fetus ; Follow-Up Studies ; Humans ; Infant ; Interviews as Topic ; Karyotype ; Karyotyping ; Medical Records ; Nuchal Translucency Measurement* ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Prevalence ; Retrospective Studies ; Trisomy