• Journal of Genetic Medicine
• /
• v.9 no.1
• /
• pp.22-24
• /
• 2012

Purpose: The aim of this study was to asses the fetal loss rate after mid-trimester amniocentesis. Materials and Methods: This was a retrospective cohort study including singleton pregnant women who underwent mid-trimester amniocentesis at Cheil General Hospital from January 2008 through December 2010. The procedure-related fetal loss was defined as miscarriage within 2 weeks after amniocentesis. We evaluated the fetal loss rate within 2 weeks after amniocentesis and fetal loss rate before 24 gestational weeks. Results: During the study period, a total of 4,356 singleton pregnant women underwent mid-trimester amniocentesis. A total of Five hundred ninety six women were excluded owing to follow up loss and termination of pregnancy due to abnormal karyotype or major anomaly. At our institute, the fetal loss rate within 2 weeks was 0.1% and before 24 gestational weeks was 0.3% after amniocentesis. Conclusion: The fetal loss rate after mid-trimester amniocentesis in our study is lower than previously reported rate. We suggest that amniocentesis is a safe procedure.

• Korean Journal of Clinical Laboratory Science
• /
• v.39 no.3
• /
• pp.151-155
• /
• 2007

Diagnosis and prevention of cytogenetics diseases are one of the most important parts in prenatal care. For that reason, it is necessary to examine birth defects. However, there is no reliable statistical data about birth defects in our country. In this study, the ratio of birth defects were determined by cytogenetics analysis and amniocentesis, in addition, the usefulness of amniocentesis was analyzed. The screening test and the triple marker test were conducted for 3,325 pregnant women of between 15 and 22 weeks gestation. Amniocentesis was performed for 170 pregnant women who were positive in the two tests, 184 women of advanced maternal age and 48 women with family history of chromosome aberrations. Among 419 women, 8 pregnant women who were positive in the triple marker test, 1 woman who close to the cut-off value in the triple marker test, 2 women with advanced maternal age and 1 woman who has history of chromosome aberration pregnance that was positive in cytogenetics analysis. The overall incidence of chromosomal aberration was 12 cases including 7 cases of Down's syndrome, 1 case of Patau syndrome, 1 case of Klinefelter syndrome, 1 case of Edward syndrome, 1 case of Robertsonian translocation and 1 case of XYY syndrome. These results show that amniocentesis for pregnant women who need chromosome test in prenatal cytogenetics analysis is very useful.

• Journal of Genetic Medicine
• /
• v.3 no.1
• /
• pp.25-27
• /
• 1999

Purpose: To present our experiences in pseudomosaicism or maternal cell contamination in genetic mid-trimester amniocentesis confirmed through percutaneous umbilical blood sampling. Methods: From 1992 to 1997, repeated cytogenetic evaluation with fetal cord blood was carried out in 14 cases showing mosaic patterns. Results: We confirmed pseudomosaicism in 12 cases (85.7%) by repeated cytogenetic evaluation, and also maternal cell contamination in 2 cases. Conclusion: Repeated cytogenetic evaluation via percutaneous umbilical blood sampling was a rapid and useful method for the confirmation of mosaicism resulted from genetic mid-trimester amniocentesis.

• Journal of Genetic Medicine
• /
• v.5 no.2
• /
• pp.125-130
• /
• 2008

Propose: To analyze the indications and cytogenetic results of midtrimester amniocentesis. Material and Methods: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000 and December 2007. Results: The most frequent indication for midtrimester amniocentesis was advanced maternal age (45.9%), followed by positive serum markers (29.9%). Chromosomal aberrations were diagnosed in 110 cases (4.4%), for which numerical aberration accounted for 38 cases (34.5%), structural aberration accounted for 65 cases (59.1%), and mosaicism accounted for 7 cases (6.4%). Among the autosomal aberrations, there were 20 cases of trisomy 21 and 8 cases of trisomy 18. With respect to structural aberrations, there were 14 cases of reciprocal translocation and 8 cases of robertsonian translocation. The frequencies of chromosomal aberrations according to the indication were highest in individuals with a family history of chromosome abnormality 14.0% (8/57) followed by previous congenital anomaly 5.9% (2/34). Conclusion: Midtrimester amniocentesis is an effective tool for prenatal diagnosis. Indications such as advanced maternal age, maternal serum markers, and ultrasound are important for predicting abnormal fetal karyotypes.

• The Journal of the Korea Contents Association
• /
• v.15 no.3
• /
• pp.252-264
• /
• 2015

The purpose of this study was to identify pregnant women's needs for information on prenatal genetic diagnosis and screening. This study is consisted of two phases. In the first phase in December 2011, six blogs featuring questions and answers on prenatal genetic diagnosis and screening were selected from four major search engines in Korea by using the keywords "prenatal genetic diagnosis," "prenatal genetic screening", and "amniocentesis." An analyzing framework was constructed on the basis of 389 posts on six blogs between November 2006 and October 2011. In the second phase, the contents of the "MomsHolicbaby" blog posted from November 2010 to October 2011 were reviewed. Then, pregnant women's questions on prenatal genetic diagnosis and screening (100 questions) and amniocentesis (200 questions with 1,665 answers) were analyzed using descriptive statistics. Among posters who had ever been recommended to undergo amniocentesis, 56.5% described feelings of anxiety, 25.5% did not know the purpose of the test, and 33.9% refused to undergo the test. Among 295 posters answering questions about amniocentesis, 61.4% disagreed with undergoing the test. The results show that there is a need for healthcare professionals to provide more educational and emotional support to pregnant women considering prenatal genetic diagnosis and screening. Providing online health information can be integrated into prenatal genetic education for pregnant women as well as nurses. In addition, prenatal women's preferences about undergoing amniocentesis should be reflected in the current legal discussion on criteria for termination of pregnancy.

• Journal of Genetic Medicine
• /
• v.18 no.2
• /
• pp.117-120
• /
• 2021

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

• Development and Reproduction
• /
• v.22 no.2
• /
• pp.199-203
• /
• 2018

Although trisomy 16 is commonly detected in spontaneous abortions and accounts for over 30% of cases of autosomal trisomy detected after spontaneous abortion, trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Here, we report a case of level III trisomy 16 mosaicism (47,XX,+16[8]/46,XX[31]) diagnosed by cytogenetic analysis of independently cultured amniotic fluid cells. The female baby was delivered at full term with low birth weight and intrauterine growth retardation, and interestingly, her karyotype was normal (46,XX). Given the difficulty in predicting the outcomes of fetuses with this mosaicism, it is recommended to inform the possibility of mosaicisms including this trisomy 16 mosaicism during prenatal genetic diagnosis and genetic counseling for parents.

• Journal of Genetic Medicine
• /
• v.11 no.2
• /
• pp.43-48
• /
• 2014

Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective for screening. Chorionic villus sampling generally is performed at 10-12 weeks by either the transcervical or transabdominal approach. There are two methods of analysis; the direct method and the culture method. While the direct method may prevent maternal cell contamination, the culture method may be more representative of the true fetal karyotype. There is a concern for mosaicism which occurs in approximately 1% of cases, and mosaic results require genetic counseling and follow-up amniocentesis or fetal blood sampling. In terms of complications, procedure-related pregnancy loss rates may be the same as those for amniocentesis when undertaken in experienced centers. When the procedure is performed after 9 weeks gestation, the risk of limb reduction is not greater than the risk in the general population. At present, chorionic villus sampling is the gold standard method for early fetal karyotyping; however, we anticipate that improvements in noninvasive prenatal testing methods, such as cell free fetal DNA testing, will reduce the need for invasive procedures in the near future.

• Journal of Genetic Medicine
• /
• v.17 no.1
• /
• pp.11-15
• /
• 2020

Purpose: The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we aimed to confirm the changes in the number of invasive tests performed after introducing NIPT. Materials and Methods: NIPT data from a large single center from March 2014 to November 2018 were analyzed. Karyotyping was confirmed based on chorionic villus sampling, amniocentesis, or postnatal cord/peripheral blood sampling. Data on maternal age, gestational age, fetal fraction, and ultrasonographic results were analyzed. As the secondary outcome, the number of amniocentesis cases before and after the introduction of NIPT was compared. Results: Overall, 1,591 single pregnancy cases that underwent NIPT were enrolled. The mean maternal age was 36.05 (22-45) years. The average gestational age and fetal fraction were 12⁺¹ (9⁺³ to 27⁺¹) weeks and 10.95% (3.6% to 31.3%), respectively. A total of 1,544 cases (97.0%) were reported to have negative NIPT results and 40 (2.5%) had positive NIPT results. The sensitivity and specificity of the overall abnormalities in NIPT were 96.29% and 99.36%, respectively. The positive predictive value (PPV) and negative predictive value were 72.22% and 99.93% respectively. The mean number of amniocentesis cases were 21.7 per month (21.7±3.9), which significantly decreased from 31.5 per month (31.5±4.8) before conducting NIPT as a screening test. Conclusion: NIPT is currently a useful, powerful, and safe screening test. In particular, trisomy 21 is highly specific due to its high PPV. NIPT can reduce the potential risks of procedure-related miscarriages during invasive testing.

• Clinical and Experimental Reproductive Medicine
• /
• v.21 no.1
• /
• pp.131-135
• /
• 1994

A 27-year-old pregnant woman who had one son with mental and growh retardation and dysmorphic features, was referred for genetic counselling. Cytogenetic investigations revealed 4/22 translocation in the mother(46, XX, t(4;22)(p14;P11)), partial trisomy 4p in son(46, XY, -22, +der(22), t(4;22)(p14;p11)mat). The father had normal karyotype. Amniocentesis and chorionic villi sampling were performed in 3 successive pregnancies. The karyotypes of fetus in 3rd, 4th pregnancies by amniocentesis were 46, XX, t(4;22)(p14;p11) and 46, XX, t(4;22) (p14;p11), and the karyotype of fetus in 5th pregnancy by chorionic villi sampling was found to be 46, XX, -22, +der(22) t(4;22)(p14;p11)mat. We report 3 succesive prenatally diagnosed familial partial trisomy 4p and 4/22 translocation of maternal origin with review of literature.