Fetal loss rates after mid-trimester amniocentesis

Objective: Amniocentesis is an invasive cytogenic test traditionally associated with a 1/200 procedure–related pregnancy loss rate. Recent studies have questioned the validity of the traditionally stated rate. The purpose of this study was to document the results of second-trimes- ter genetic amniocentesis performed at our pe- rinatalogy clinic. Study Design: A retrospective review of all the amniocentesis procedures per- formed between 15 and 22 weeks of gestation on singleton pregnancies between May 2004 and December 2008 was performed. Spontaneous loss was defined as any unintentional preg- nancy loss at < 24 weeks of gestation. Setting: Zonguldak Karaelmas University, Faculty of Me- dicine, Department of Obstetrics and Gynecology. Population: Pregnant women followed at the Obstetrics Department. Methods: A retrospective review of all the amniocentesis procedures performed between May 2004 and December 2008 was performed. Main outcome measure: Pregnancy loss due to amniocentesis. Results: A total of 447 amniocentesis procedures were performed during the study period. The major indication for amniocentesis was positive maternal triple screening (44%). The mean gestational age at amniocentesis was 18.80 ± 2.70 weeks. The results of cytogenetic analyses revealed an abnormal karyotype in 19 pregnancies (4.3%), nine of which were trisomy 21. The overall spontaneous loss rate was 0.89% (n = 4). Conclusion: It would be useful for each center to investigate its own pregnancy loss rate and thereby provide a firmer basis for its policy for counseling women requesting amniocentesis. If enough such investigations were reported, a true benchmark figure could also emerge.

Instrument-Dependent or Instrument-Independent Indications and Prevalence of Chromosomal Abnormalities by Amniocentesis in China:An Analysis of 4146 Cases of Amniocentesis

Objective:There is a high incidence of birth defects in China,and prenatal diagnosis is an important method of intervention.This study aims to describe the clinical indications and cytogenetic results of amniocentesis cases in central China.Methods:We retrospectively reviewed cases at the Maternal and Child Care Service Centre in Henan Province from January 2012 to December 2014.A total of 4497 at-risk mothers(risk factors:advanced maternal age,history of intrauterine fetal death or aborted fetuses,chromosomal abnormality in one of the parents,high-risk maternal serum screening results,and abnormal ultrasonographic findings in the first or second trimester)were recruited for amniocentesis(AS).The subjects included were between 11–14 and 18–22 weeks of gestation.All cases were divided into two groups based on instrument-independent or instrument-dependent indications.Results:A total of 4146 cases were analyzed.Of these,chromosomal abnormalities were detected in 232 cases(5.6%),and autosomal aneuploidy,including trisomy 21 and trisomy 18,was found to be the most common(55.7%)chromosomal abnormality.The mean age of 29.94 years was not expected as all mothers older than 35 years old were routinely offered amniocentesis at the time of the study.Amniocentesis was carried out in 1711 cases because of instrument-independent indications,and 285 of these cases were diagnosed with chromosomal abnormality.In 2376 cases,amniocentesis was conducted because of instrumentdependent indications,and 176 of these were diagnosed with chromosomal abnormality.Thus,5.6%of the cases were diagnosed with chromosomal abnormalities,and autosomal aneuploidy,including trisomy 21 and trisomy 18,were the most common chromosomal abnormalities detected in the present study Conclusion:Our result indicated the significance of instrument-independent indications in the screening of chromosomal abnormalities,especially in developing areas.Birth defects may be reduced by paying more attention to the patients’history of medication.

Cytogenetic Analysis for Fetal Chromosomal Abnormalities by Amniocentesis:Review of Over 40,000 Consecutive Cases in a Single Center

Background:The aim of this study was to retrospectively investigate the 18-year experience of prenatal diagnosis of fetal karyotype analysis by amniocentesis.Methods:In this study,the authors reviewed the cytogenetic results of 40,208 fetuses with indications for amniocentesis enrolled from December 1998 to December 2015.Cytogenetic analysis of amniotic fluid was performed in all these pregnancies.Eight indications for amniocentesis were included.The detection rate and distribution of abnormal karyotypes were observed in each indication.Results:Among all these samples,abnormal maternal serum screening test was the most common indication for amniocentesis(17,536,43.67%),followed by advanced maternal age(11,734,29.18%),abnormal ultrasound findings(5,328,13.25%),and required by pregnant women(2,557,6.36%).Chromosomal abnormality was detected in 1,349(3.36%)samples,63.01%of the abnormalities were numerical,and 36.99%were structural.The detection rates of abnormal karyotype were 55.60%in one of the couple with chromosomal abnormality,4.43%in the pregnant women with pathological ultrasound finding,2.83%in the pregnant women with advanced age,and 2.73%in women with abnormal maternal serum screening tests.Of the fetuses with chromosome aberrations,680(50.41%)had trisomy 13,trisomy 18,or trisomy 21,and 138(10.23%)had sex chromosome disorder.The other 531 abnormal samples included translocation,mosaicism,inversion,deletion,addition,and marker chromosome.Conclusions:Cytogenetic analysis,therefore,remained an effective approach to decrease the birth defects of fetuses with indications for amniocentesis.These results could provide meaningful suggestions for clinical genetic consulting and prenatal diagnosis.

An Early Pregnant Chinese Woman with Cerebral Venous Sinus Thrombosis Succeeding in Induction of Labor in the Second Trimester

Cerebral venous sinus thrombosis(CVST)is a rare condition in early pregnancy.A22-year-old Chinese woman at10weeks of pregnancy requested induced abortion and was diagnosed as CVST for a severe headache accompanying with nausea and vomiting.The patient was treated successfully with anticoagulation,followed by amniocentesis,and finally succeeded in induction of labor safely.The diagnosis,treatment and prognosis for this rare condition are discussed in this paper.

The AL-SENSE Test is Reliable for Detection of Second Trimester Amniotic Fluid

Objective: To validate the reliability and stability of the AL-SENSE panty-liner for detection of amniotic fluid in the second trimester. Study design: Amniotic fluid drawn during amniocentesis between 16 to 23 weeks of gestation was used for the study.100 μl and 400 μl of amniotic fluid, were dripped onto two panty liners, respectively. After 5 minutes the indicator strip was removed from the AL-SENSE, dried and examined. The color was recorded at time 0 and 5 minutes, and then every 10 minutes for the first 30 minutes, then at 1, 2, 6 and 12 hours. Results: 50 women were enrolled and 49 completed the study. 100% of both volume samples changed color from yellow to blue during the first 5 minutes and remained stable after twelve hours of follow-up. In the 100 μl subgroup, seven of the 49 samples (14.3%) had a delayed color change and in the 400 μl subgroup one of 49 (2.04%) had a delay in change of color. Conclusion: Amniotic fluid drawn during amniocentesis at weeks 16 - 23 of gestation have a positive, stable staining effect on the AL-SENSE panty liner. Hence, AL-SENSE may be reliable for detection of amniotic fluid leakage during the second trimester.

Prenatal Diagnosis and Management of Fetal Goiter Treated Successfully with Intra-Amniotic Levothyroxine

Goiter is an enlargement of the thyroid gland which can be associated with a number of complications both for the mother and the fetus. A 34-year-old pregnant woman with normal thyroid function was referred to our Department of Obstetrics and Gynecology at Microcitemico Pediatric Hospital, Cagliari, for suspected fetal goiter at 32 gestational weeks. The case was monitored regularly by ultrasound and treated successfully with intra-amniotic levothyroxine (L-T4) administration. Fetal goiter was observed to decrease after this treatment and the thyroid ultrasound findings were also normal both at birth and in subsequent follow-ups. Our case report confirms the feasibility of conservative treatment with L-T4, which can effectively prevent complications related to fetal goiter.

Prenatal Testing or Screening?

Over the past 50 years,the scope and extent of prenatal diagnosis and screening for genetic disorders have improved geometrically.There has been a pendulum like swing from testing to screening back and forth as new technologies emerge.The concurrent developments of cell free fetal DNA analysis of maternal blood has dramatically changed patient’s choices towards screening.However,with the use of array comparative genomic hybridization of fetal DNA that requires diagnostic procedures(Chorionic villus sampling and amniocentesis),much more extensive diagnosis can be obtained.Until noninvasive methods can replicate what can be done with diagnostic procedures there still will be a"price to be paid"for opting for the non-invasive methods.