First-trimester chorionic villus sampling: genetic analysis of 985 cases / 中华围产医学杂志

Objective@#To investigate the value and safety of first-trimester chorionic villus sampling (CVS) in prenatal diagnosis.@*Methods@#This study retrospectively analyzed the clinical data of 985 cases undergoing CVS and prenatal diagnosis with karyotyping and fluorescence in situ hybridization (FISH) in the Department of Obstetrics and Gynecology of Peking University First Hospital from January 2012 to December 2017. The success rate of cell culture, indications for prenatal diagnosis, karyotyping results, and complications of CVS were described.@*Results@#Among the 985 cases, 970 (98.48%) underwent FISH and 893 (90.66%) received karyotyping, and 878 (89.14%) accepted both. After CVS, the success rate of cell culture was 96.64% (863/893). Abnormal ultrasonographic findings (42.64%, 420/985) were the most common indications for prenatal diagnosis. In this study, 181 cases of chromosomal abnormalities were detected, including numerical and structural abnormalities, accounting for 18.38% of all 985 cases. Those cases with abnormal ultrasonographic images had the highest detection rate of chromosomal abnormalities (31.90%, 134/420), followed by those with adverse pregnant history (11.83%, 20/169) and advanced maternal age (8.21%, 11/134). In addition, there was a discrepancy between karyotyping and FISH results, which might due to 16 cases of placental mosaicism and 13 cases of maternal cell contamination (MCC). Embryonic demises were reported in six cases (0.61%, 6/985), including four with chromosomal numerical abnormalities within four weeks after CVS. No other short- or long-term postoperative complications were found in the rest 979 cases (99.39%).@*Conclusions@#CVS in the first trimester is a safe and reliable invasive method for prenatal diagnosis, which can help to obtain an earlier diagnosis in a certain population such as those with abnormal ultrasonographic findings, thus improve the pertinence and efficiency of prenatal diagnosis. However, the potential influences of placental mosaicism and MCC on the diagnostic results should not be ignored.

First-trimester chorionic villus sampling: genetic analysis of 985 cases / 中华围产医学杂志

Objective To investigate the value and safety of first-trimester chorionic villus sampling (CVS) in prenatal diagnosis.Methods This study retrospectively analyzed the clinical data of 985 cases undergoing CVS and prenatal diagnosis with karyotyping and fluorescence in situ hybridization (FISH) in the Department of Obstetrics and Gynecology of Peking University First Hospital from January 2012 to December 2017.The success rate of cell culture,indications for prenatal diagnosis,karyotyping results,and complications of CVS were described.Results Among the 985 cases,970 (98.48％) underwent FISH and 893 (90.66％) received karyotyping,and 878 (89.14％) accepted both.After CVS,the success rate of cell culture was 96.64％ (863/893).Abnormal ultrasonographic findings (42.64％,420/985) were the most common indications for prenatal diagnosis.In this study,181 cases of chromosomal abnormalities were detected,including numerical and structural abnormalities,accounting for 18.38％ of all 985 cases.Those cases with abnormal ultrasonographic images had the highest detection rate of chromosomal abnormalities (31.90％,134/420),followed by those with adverse pregnant history (11.83％,20/169) and advanced maternal age (8.21％,11/134).In addition,there was a discrepancy between karyotyping and FISH results,which might due to 16 cases of placental mosaicism and 13 cases of maternal cell contamination (MCC).Embryonic demises were reported in six cases (0.61％,6/985),including four with chromosomal numerical abnormalities within four weeks after CVS.No other short-or long-term postoperative complications were found in the rest 979 cases (99.39％).Conclusions CVS in the first trimester is a safe and reliable invasive method for prenatal diagnosis,which can help to obtain an earlier diagnosis in a certain population such as those with abnormal ultrasonographic findings,thus improve the pertinence and efficiency of prenatal diagnosis.However,the potential influences of placental mosaicism and MCC on the diagnostic results should not be ignored.

Chorionic villus cell culture and karyotype analysis in 1983 cases of spontaneous miscarriage / 中华妇产科杂志

Objective To investigate the relationship between spontaneous miscarriage and embryonic chromosome abnormalities,and to evaluate the clinical application of karyotype analysis by chorionic villus cell culture. Methods The chorionic villus karyotype of 1983 cases of miscarriage from January 2010 to July 2016 in Guangzhou Women and Children′ s Mecical Center were analyzed retrospectively. The miscarried chorionic villi were obtained by curettage under sterilized condition. The chromosome specimens were prepared after chorionic villus cell culture. Karyotype analysis was performed by G-banding technique. Results In the 1983 samples, successful karyotype analysis was performed in 1770 cases, with the successful rate of 89.98%. Chromosomal abnormalities were found in 1038 cases (58.64%,1038/1770). Chromosomal structural abnormalities were found in 37 cases. The numeral abnormalities were more common than structural abnormalities, and most of the numeral abnormalities were aneupoidies. In turn, they were trisomy 16, 45,X, trisomy 22, trisomy 2, trisomy 21, trisomy 15. The most common structural abnormality was balanced translocation, including Robersonian translocation. Female embryoes accounted for 61.02%(1080/1770) miscarriages and for 57.4%(596/1770) of chromosomal abnormalities, while male embroyes acoounted for 61.02%(1080/1770),57.4%(596/1770)respectively. The proportion of female embryoes was higher than male embryoes. The median age of the patients was 30 years old(16-46 years old). As the maternal age increased, the proportion chromosomal abnormalities increased. The incidence of chromosomal abnormalities in the advanced age group (≥35 years) was 68.38%(240/351), which was significantly higher than that in the younger group (56.24% ,798/1419; χ2=17.10, P<0.01). Conclusions Embryonic chromosomal abnormalities are the most common cause of early spontaneous miscarriage. The abnormalities centralize in some karyotypes. There is certain relationship between maternal age and the incidence of miscarriage, as well as the embryonic gender. Chorionic villus cell culture and karyotype analysis are helpful in finding the cause of miscarriage and counsel the patients.

Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution

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.

Prenatal diagnosis of single gene disorders and role of multidisciplinary cooperative mode / 中华围产医学杂志

Objective To evaluate the trend in prenatal diagnosis of single gene disorders (SGD) and role ofmultidisciplinary cooperative mode.Methods In January l,2012,amultidisciplinarycooperativemode for SGD diagnosis was established in the Peking University First Hospital,involving Departments of Obstetrics,Pediatrics,Neurology,Dermatology and Central Laboratory.For each pregnant woman with a family history of SGD for prenatal diagnosis,propositus should be diagnosed in the relevant departments,and then further diagnosed,managed and followed up by the Obstetrics Department.Up to December 31,2014,of 6 681 women for prenatal diagnosis,279 women had a family history of SGD:76 of them received chorionic villus sampling (CVS) at 11-14 gestational weeks,and 203 received amniocentesis (AC) at 16-22 gestational weeks.The trend in SGD diagnosis and the safety of CVS and AC were analyzed using Chi-square test.Results The proportion of SGD family history in AC group was 3.2％ (203/6 355),which stayed stable with 2.3％ (47/2 054) in 2012,3.9％ (78/2 023) in 2013 and 3.4％ (78/2 278) in 2014,and there was no significant difference between 2013 and 2014 (x2=0.571,P=0.463).In CVS group,the proportion of SGD family history was 23.3％ (76/326),showing an increasing trend with 18.2％ (8/44) in 2012,17.6％ (19/108) in 2013 and 28.2％ (49/174) in 2014,and there were significant differences between 2013 and 2014 (x2=4.067,P=0.046).The proportion of SGD family history in CVS group was higher than in AC group in year 2012,2013 and 2014 (x2＝42.626,44.531 and 201.400,all P=0.000).Among the 279 cases of SGD family history,no complications and adverse outcome were observed except an intra-uterine fetal death occurring 6 months after CVS in one woman,but 3 fetuses were found to have chromosome anomalies with one trisomy 18,one 45,X,and one mosaicism of 45,X/46,XY which was determined to be normal by AC.Conclusions SGD family history is one of the important indicators in prenatal diagnosis,and CVS is feasible for prenatal diagnosis of SGD family history as early as in the first trimester.Multidisciplinary cooperative mode is helpful in SGD family history diagnosis.

Analysis of increased nuchal translucency: Chorionic villi sampling and second-trimester level II sonography

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.

Maternal cell contamination of prenatal samples and the potential effects on prenatal diagnosis results / 中华妇产科杂志

Objective To assess the frequency and significance of maternal cell contamination (MCC)in the invasive prenatal diagnosis,and to analysis the MCC effect on prenatal diagnosis results.Methods Totally 519 amniotic fluid samples from second trimester pregnancy,57 chorionic villus samples from first trimester pregnancy,and 576 blood samples from corresponded pregnant women were collected and genotyped by Promega PowerPlex 16 system.MCC was determined according to the genotyping results.Karyotypic and molecular diagnosis results were contrasted between MCC and non-MCC specimen of the same fetal.Results MCC presented in 3.1％(16/519)uncultured amniotic fluid,1.3％(7/519)cultured amniotic fluid and 5％(3/57)villi specimens.In the study of fetal karyotype,MCC had no significant effect on normal female fetus;but for male fetus and abnormal female fetus,there were risk of erroneous results of mosaics.As to molecular diagnosis,MCC resulted in more complex effects for the different diagnostic methods.And 10％ MCC had led to misdiagnosis.Conclusions For the prenatal cytogenetic tests,MCC should be excluded when there were mosaicism karyotype results or suspicious MCC of chorionic villi samples.The effects of MCC had more seriously impact on prenatal molecular testing,which suggesting the recommend regular identity test for MCC should bc carried out.

Os macrófagos na placenta durante o trabalho de parto / The macrophages in the placenta during labor

OBJETIVO: verificar a quantidade de células CD68+ no estroma das vilosidades coriônicas na placenta de gestações submetidas ou não ao trabalho de parto. MÉTODOS: estudo transversal, com gestantes saudáveis a termo, das quais 31 placentas foram examinadas pela técnica de imunoistoquímica. Vinte placentas foram obtidas após partos vaginais (GVAG) e 11 obtidas em cesarianas eletivas (GCES). Lâminas foram preparadas com amostras de vilosidades coriônicas e submetidas à marcação com anticorpo anti-CD68, específico para macrófagos. Foram contadas as células marcadas e as não marcadas dentro das vilosidades. Testes estatísticos não-paramétricos foram utilizados para a análise. RESULTADOS: entre 6.424 células contadas no estroma das vilosidades das 31 placentas, 1.135 células (17,6%) foram marcadas pelo CD68+. Em cada amostra placentária, a média de células coradas pelo anticorpo anti-CD68 foi de 22±18 para o grupo GVAG e de 20±16 para o grupo GCES. CONCLUSÕES: não houve diferenças significantes no percentual de macrófagos (CD68+) em associação com o trabalho de parto.

PURPOSE: to verify the amount of CD68+ cells in chorionic villosities in placentae from gestations submitted or not to labor. METHODS: transversal study with healthy near-term pregnant women, among whose placentae, 31 have been examined by immunohistochemical technique. Twenty placentae were obtained after vaginal delivery (VAGG) and eleven after elective cesarean sections (CESG). Slides were prepared with chorionic villosities samples and labeled with anti-CD68 antibody, specific for macrophages. Labeled and nonlabeled cells were counted inside the villosities. Non-parametric statistical tests were used for the analysis. RESULTS: among the 6,424 cells counted in the villosities' stroma from the 31 placentae, 1,135 cells (17.6%) were stained by the CD68+. The mean of cells labeled by the anti-CD68 was 22±18 for the VAGG group and 20±16 for the CESG, in each placentary sample. CONCLUSIONS: there were no significant differences in the percentage of macrophages (CD68+) in association with labor.

Comparison between transabdominal and transcervical chorionic villus sampling in clinical application for prenatal diagnosis / 中华妇产科杂志

Objective To compare transabdominal and transcervical chorionic villus sampling (TC-CVS) in application for prenatal diagnosis, and to summarize the experience of transabdominal chorionlc villus sampling (TA-CVS). Methods One hundred and nine TA-CVS between April 2005 and November 2007 and 69 TC-CVS between August 1999 and March 2005 were retrospectively analyzed. Results ( 1 ) The mean gestational age was (12.4±1.9) weeks at TA-CVS and (8.8±1.2) weeks at TC-CVS (P< 0.01). (2) Compared with TC-CVS, punctures were fewer (1.4±0.5) and (1.1±0.4) and specimen amount was more (9±5) mg and (17±5) mg in TA-CVS, and the success rate of one puncture (62.3% vs 87.2% ) was higher in TA-CVS. (3)Among the cases followed up, the incidence of vaginal bleeding(TA-CVS: 2 eases, 2.0% ; TC-CVS: 2 cases, 6.1% ) and spontaneous abortion (TA-CVS: 4 cases, 4.0%; TC-CVS: 1 cases, 3.0%) were not significantly different between the two groups(P>0.05).Conclusion TA-CVS appears to be a good method for early prenatal diagnosis with a wide range of indications, high success rate and sufficient specimen.

Diagnóstico pré-natal das genodermatoses / Prenatal diagnosis of genodermatoses

O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.

Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and genetic testing of embryos. However, this technique has been performed for genodermatoses in only a few reference centers. Ultrasonography is a non-invasive test, but has a limited use in prenatal diagnosis of genodermatoses. Tridimensional ultrasonography usually establishes diagnosis late in pregnancy and there are only anecdotal reports of prenatal diagnosis of genodermatoses using this method.

Complicações materno-fetais da biópsia de vilo corial: experiência de um centro especializado do Nordeste do Brasil / Fetal and maternal complications of chorionic villus sampling: results from a specialized center in the Northeast of Brazil

OBJETIVO: avaliar complicações maternas e fetais após realização de biópsia de vilo corial (BVC) para diagnóstico pré-natal de alterações genéticas, na cidade de Salvador (BA). MÉTODOS: série de 958 gestantes de risco para cromossomopatias, submetidas à BVC realizada entre a nona e a 24ª semanas de gestação, por via transabdominal, utilizando agulha espinhal 18G 3½, guiada por ultra-sonografia, entre 1990 e 2006. As variáveis para a análise de complicações imediatas foram cólicas uterinas, hematoma subcoriônico, punção acidental da cavidade amniótica, dor no local da punção, amniorrexe, desconforto abdominal, bradicardia fetal e sangramento vaginal, e para complicações tardias, dor abdominal, sangramento vaginal, amniorrexe, infecção e abortamento espontâneo. Complicações obstétricas e fetais (parto prematuro, descolamento prematuro de placenta, placenta prévia e malformações anatômicas fetais) foram também estudadas. Para análise estatística, utilizaram-se o chi² e o teste t de Student ou Mann-Whitney; o nível de significância foi 5 por cento. RESULTADOS: a média de idade das gestantes foi 36,3±4,9 anos. Complicações imediatas foram encontradas em 182 (19 por cento) casos (cólica uterina em 14 por cento, hematoma subcoriônico em 1,8 por cento e punção amniótica acidental em 1,3 por cento) e tardias em 32 (3,3 por cento) casos (sangramento vaginal em 1,6 por cento, dor abdominal em 1,4 por cento, amniorrexe em 0,3 por cento e aborto espontâneo em 1,6 por cento). Não foi observado descolamento prematuro de placenta, placenta prévia ou malformação fetal. CONCLUSÕES: a BVC revelou-se procedimento simples e seguro. A BVC pode ser utilizada em gestantes que necessitam de diagnóstico pré-natal devido ao risco de anomalias genéticas.

PURPOSE: to evaluate fetal maternal complications after chorionic villus sampling (CVS) for prenatal diagnosis of genetic disorders in pregnant women of Salvador (BA), Brazil. METHODS: case-series study of 958 pregnancies with high risk for chromosomal abnormality submitted to CVS transabdominal between the ninth to the 24th week of gestation, using an ultrasound-guided 18G 3½ spinal needle, from 1990 to 2006. The variables for the analysis of immediate complications were uterine cramps, subchorionic hematoma, accidental amniotic cavity punction, pain in the punction area, amniotic fluid leakage, abdominal discomfort, fetal arrhythmias and vaginal bleeding, and of late complication, abdominal pain, vaginal bleeding, amniotic fluid leakage, infection and spontaneous miscarriage. Premature labor, obstetrical complications (abruption placenta and placenta previa) and newborn malformation were also studied. Qui-square, Student’s "t" or Mann-Whitney tests were used for the statistical analysis; the significance level was 5 percent. RESULTS: maternal mean age was 36.3±4.9 years old. Immediate complications ware found in 182 (19 percent) cases (uterine cramp in 14 percent, subchorionic hematoma in 1.8 percent and accidental amniotic cavity punction in 1.3 percent). Late complications were found in 32 (3.3 percent) cases (vaginal bleeding in 1.6 percent, abdominal pain in 1.4 percent, amniotic fluid leakage in 0.3 percent and spontaneous miscarriage in 1.6 percent cases). There was no case of abruption placentae, placenta previa or fetal malformation. CONCLUSIONS: CVS is a simple and safe procedure. CVS should be performed in high risk pregnant patients who need prenatal diagnosis of fetal chromosomal abnormalities.

Prenatal diagnosis of partial trisomy 3q with omphalocele in the first trimester of pregnancy / 대한산부인과학회지

Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 3q usually demonstrates characteristic facial appearance, developmental delay, brain and ocular anomalies, severe growth retardation, congenital heart disease, renal and genitourinary malformations, omphalocele, and skeletal and limb anomalies with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 3q in Korea. We present the case of partial trisomy 3q with omphalocele from maternal balanced translocation, which was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings.

Abnormal Prenatal Sonographic findings in Two Cases of Zellweger Syndrome / 대한주산의학회잡지

Zellweger syndrome is a lethal autosomal recessive disorder characterized by neonatal hypotonia, neonatal seizure, psychomotor retardation, facial dysmorphism, and hepatomegaly. It is characterized by an absence or marked decrease of the number of peroxisomes. Children with Zellweger syndrome rarely survive their first year of life. Diagnosis depends on demonstration of elevated very long chain fatty acid in plasma and deficient activity of the peroxisomal enzyme. Chorionic villi sampling or the biochemical analysis of amniocytes makes it possible to identify a fetus affected by Zellweger syndrome during the first trimester of pregnancy. We experienced two cases of postnatally diagnosed Zellweger syndrome with mild sonographic abnormalities prenatally and report our cases with a brief review of literature.

Prenatal Diagnosis by Direct DNA Analysis in Facioscapulohumeral Muscular Dystrophy (FSHD) Families

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and upper arm muscles. The responsible gene for the FSHD has been located on chromosome 4q35-qter. The probes p13E-11 and pFR-1 detect DNA rearrangements associated with FSHD as under 28 kb DNA fragment in genomic southern analysis digested with EcoR I and the fragment contains 3.3 kb Kpn I tandem repeats. In this study, 4 fetuses with a family history of FSHD were analysed by genomic southern hybridization analysis with probes to determine whether they carried the deleted region. Of the 4 fetuses, three of them had mothers who were FSHD patients and the other one had a father affected with FSHD. After 10-11 weeks of gestation, we performed chorionic villi sampling and extracted DNA from uncultured and cultured tissue cells for the direct DNA analysis. The result of the southern analysis showed two fetuses having received about 15-18 kb of deleted genes from the father and the mother respectively, and found to be FSHD patients. The other two fetuses were shown to have two normal alleles from the parents and found to be normal. Two pregnancies which were determined to be normal were carried to term delivering two healthy babies.

Chromosime Analysis from Chorionic Villi Samples in Recurrent Sponataneous Abortion / 대한주산의학회잡지

Recurrent abortion has been defined as the occurrence of three or more clinically recognized pregnancy loss before 20 weeks and it occurs in 1% of women. The chromosomal abnormalities of abortuses have been suggested as the most common causes of recurrent abortion. We have studied the incidence of chromosomal abnormalities in 57 patients with recurrent abortion using the chorionic villi samples. Of the 57 abortuses analysed, 32 (56.1%) had chromosomal abnormalities. Trisomy was predominant (23 cases, 40.4%), followed by mosaicism 3 (5.2%), tetraploidy 2 (3.5%), monosomy 2 (3.5%), and structural anomaly 1 (1.8%). Trisomy for the chromosome 16 was most prevalent among trisomies. The incidence of trisomy was positively related to matemal age above 35 year-old. But there is not statistically significant. And there are no correlation between gestational age and chromosomal abnormalities. In conclusion, the incidence of chromosomal abnormalities of recurrent abortuses was 56.1% which was similar to that of the other reports. This means that the analysis of karyotype of chorionic villi, as the first test to investigate the cause of recurrent abortion, may be not useful, however, it will require further.