• Journal of Genetic Medicine
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• v.11 no.2
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• pp.49-55
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• 2014

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.

• 대한생식의학회:학술대회논문집
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• 2005.11a
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• pp.130-130
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• 2005

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

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.74-80
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• 2009

Purpose: To assess the value of first-trimester pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and second-trimester alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A in predicting pregnancy complications other than fetal aneuploidy. Materials and Methods: A retrospective study in 3,121 singleton pregnancies with integrated testing was performed at Kangnam CHA hospital between January 2005 and December 2006. Baseline characteristics, pregnancy outcomes, and serum marker levels were obtained by review of the medical records. We analyzed the data to identify associations between the integrated screening markers and adverse pregnancy outcomes. Statistical analyses were performed with the SPSS program. Results: In preterm labor and preeclampsia, high AFP, hCG, and inhibin-A levels and low PAPP-A and NT levels were found to be significantly correlated (P<0.05). Elevated second-trimester inhibin-A levels were associated with preeclampsia (odds ratio 2.843), low birth weight (odds ratio 1.446), and preterm labor (odds ratio 1.287), and while decreased first-trimester PAPP-A levels were associated with preeclampsia (odds ratio 0.51) and preterm labor (odds ratio 0.75). Conclusion: First- and second-trimester maternal serum markers screening can be used for predicting high-risk pregnancies.

• Journal of Yeungnam Medical Science
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• v.4 no.2
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• pp.121-129
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• 1987

To evealuate the status of hepatitis B virus infection in the mothers and neonates and to determine the maternal-neonatal transmission of hepatitis B virus, 2,276 term pregnant women were screened for the presence of serum HBsAg, at the Department of Obstetrics and Gynecology, Yeungnam University Hospital, during the period of 18 months from Jan. 1986 to Jun. 1987, and the sera of sixty-six HBsAg carrier mothers and their neonates were tested for HBV markers and liver enzymes. The results were as follows : 1. The prevalence rate of asymptomatic HBsAg carrier in the term pregnant women was 4.7%(53/1,279). 2. Positive rates of HBsAg and anti-HBs 10 the sera of sixty-six neonates born to asymptomatic HBsAg carrier mothers were 12.1% and 9.1%, respectively. Transient elevation of SGOT(three to four times of upper normal limit) was detected in one of eight HBsAg-positive neonates and one of six anti-HBs positive neonates. 3. Positive rates of anti-HBc, HBeAg and anti-HBe to the sera of sixty-six asymptomatic HBsAg carrier term pregant women were 93.9%, 45.5% and 50%, respectively. The rates of transmission of maternal anti-HBc, HBeAg and anti-HBe to the neonates were 85.5%(53/62), 90%(27/30) and 87.9%(29/33). respectively. 4. Serum HBsAg was detected in four of thirty neonates born to HBeAg positive HBsAg carrier mother, three of thirty-three neonates born to anti-HBe positive HBsAg carrier mothers, and one of three neonates born to both HBeAg and anti-HBe negative HBsAg carrier mothers.

• Development and Reproduction
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• v.13 no.1
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• pp.1-11
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• 2009

Implantation itself is governed by an array of endocrine, paracrine and autocrine modulators, of embryonic and maternal origin. Window of implantation is the unique temporal and spatial expression of factors allows the embryo to implant via signaling, appositioning, attachment, and invasion in a specific time frame of $2{\sim}4$ days. When the embryo has arrived in the uterine cavity, a preprogrammed sequence of events occurs, which involves the production and secretion of a multitude of biochemical factors such as cytokines, growth factors, and adhesion molecules by the endometrium and the embryo, thus leading to the formation of a receptive endometrium. Cytokines such as LIF, CSF-1, and IL-1 have all been shown to play important roles in the cascade of events that leads to implantation. Integrin, L-selectin ligands, glycodelin, mucin-1, HB-EGF and pinopodes are involved in appositioning and attachment. The embryo also produces cytokines and growth factors (ILs, VEGF) and receptors for endometrial signals such as LIF, CSF-1, IGF and HB-EGF. The immune system and angiogenesis play an important role. The usefulness of these factors to assess endometrial receptivity and to estimate the prognosis for pregnancy in natural and artificial cycles remains to be proven. Integrins, pinopodes, glycodelin and LIF (from biopsies) are promising candidates; from uterine flushings, glycodelin and LIF are also candidates. The ideal serum marker is not available, but VEGF, glycodelin and CSF have some clinical implications. Further evaluation that includes larger groups of infertile women and fertile controls are needed to elucidate whether their presence in plasma, flushing fluid, or endometrial samples can be used as some kind of a screening tool to assess endometrial function and prognosis for pregnancy before and after artificial reproductive therapy. A better understanding of their function in human implantation may lead to therapeutic intervention, thereby improving the success rate in reproduction treatment. New molecular techniques are becoming available for measuring both embryonic and endometrial changes prior to and during implantation. The use of predictive sets of markers may prove to be more reliable than a single marker. Ultimately, the aim is to use these tools to increase implantation in artificial cycles and consequently improve live-birth rates.