40: Aneuploidy - Part 2

Join me as we finish our discussion on anueplody screening. In this episode we discuss the risks of amniocentisis and chorionic villus sampling, cell-free DNA, and different screening strategies.

Comparing Different Strategies

The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort


A report of the safety and accuracy of midtrimester amniocentesis at the Medical College of Georgia: Eight and one half years' experience


Maternal complications following amniocentesis and chorionic villus sampling for prenatal karyotyping

Chorionic Villus Sampling

Fetal Complications of Amniocentesis

Intrauterine diagnosis and management of genetic defects

Role of Amniocentesis in the Intrauterine Detection of Genetic Disorders

Needle puncture of fetus: A complication of second- trimester amniocentesis

Fetal loss rate after chorionic villus sampling
and amniocentesis: an 11-year national registry study

Procedure-Related Complications of Amniocentesis and Chorionic Villous Sampling

Analysis of 2136 genetic amniocenteses: Experience of a single physician

Midtrimester amniocentesis: An analysis of 923 cases with neonatal follow-up

Cell-Free DNA

Presence of fetal DNA in maternal plasma and serum

Increased Fetal DNA Concentrations in the Plasma of Pregnant Women Carrying Fetuses with Trisomy 21

Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology.

Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses

Noninvasive Prenatal Detection of Aneuploidy

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection

36: Journal Club - July 2018

I am joined by minimally invasive gynecologic surgeons Dr. Blaber and Dr. Lian to discuss a paper from the May issue of AJOG.

Laparoscopic vs transvaginal cuff closure after total laparoscopic hysterectomy: a randomized trial by the Italian Society of Gynecologic Endoscopy

Uccella S, Malzoni M, Cromi A, et al. Laparoscopic vs transvaginal cuff closure after total laparoscopic hysterectomy: a randomized trial by the Italian Society of Gynecologic Endoscopy. Am J Obstet Gynecol 2018;218:500.e1-13.

34: Aneuploidy - Part 1

In this episode we trace the history of aneuploidy screening from the early days of amniocentesis to the modern day serum screening. 



1987 Cuckle Paper:

Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level

Other references in no particular order:

First-Trimester or Second-Trimester Screening, or Both, for Down’s Syndrome


First Trimester Biochemical Screening for Trisomy 21: The Role of Free Beta hCG, Alpha Fetoprotein and Pregnancy Associated Plasma Protein A

First trimester biochemical screening for trisomy 21: the role of free beta heG, alpha fetoprotein and pregnancy associated plasma protein A


Screening for Down's Syndrome

Contingent screening for Down syndrome completed in the

First trimester: a multicenter study

UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation

Antenatal maternal serumscreening for Down's syndrome: results of a demonstration project

Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening

Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome

Low second trimester maternal serum unconjugated oestriol in pregnancies Down's syndrome

Fetal nuchal translucency: ultrasound screening for chromosomal defectsinfirsttrimesterofpregnancy

Maternal serum screening for Down's syndrome in early pregnancy

Combining maternal age and serum alpha-fetoprotein to predict the risk of Down syndrome

Appropriate Biochemical Parameters in First-trimester Screening for Down Syndrome

Screening in early pregnancy for pre-eclampsia using Down syndrome Quadruple test markers

32: Oncofertility and fertility preservation

In this episode Dr. Jillian Kurtz walks us through the methods and rationale behind fertility preservation for patients with cancer or undergoing transgender procedures.

29: Journal Club - April 2018

28: PCOS - Part 2

In this episode we finish up PCOS by discussing the management and long-term consequences.


  1. Polycystic ovary syndrome: etiology, pathogenesis and diagnosis
  2. Combined oral contraceptives in the treatment of polycystic ovary syndrome
  3. Ovarian Suppression in Normal-Weight and Obese Women During Oral Contraceptive Use: A Randomized Controlled Trial
  4. Ovulation incidence with oral contraceptives: a literature review
  5. Shorter pill-free interval in combined oral contraceptives decreases follicular development
  6. Comparison of efficacy of metformin and oral contraceptive combination of ethinyl estradiol and drospirenone in polycystic ovary syndrome
  7. Evidence-Based and Potential Benefits of Metformin in the Polycystic Ovary Syndrome: A Comprehensive Review
  8. Metformin, oral contraceptives or both to manage oligo-amenorrhea in adolescents with polycystic ovary syndrome? A clinical review
  9. Additive Effects of Insulin-Sensitizing and Anti-Androgen Treatment in Young, Nonobese Women with Hyperinsulinism, Hyperandrogenism, Dyslipidemia, and Anovulation
  10. Metformin and gonadotropins for ovulation induction in patients with polycystic ovary syndrome: a systematic review with meta-analysis of randomized controlled trials
  11. Aromatase inhibitors for subfertile women with polycystic ovary syndrome: summary of a Cochrane review
  12. Epidemiology, diagnosis and management of hirsutism: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society
  13. Impaired glucose tolerance, type 2 diabetes and metabolic syndrome in polycystic ovary syndrome: a systematic review and meta-analysis
  14. Lifestyle Modification Programs in Polycystic Ovary Syndrome: Systematic Review and Meta-Analysis
  15. The Impact of Bariatric Surgery on Polycystic Ovary Syndrome: a Systematic Review and Meta-analysis
  16. Assessment of Cardiovascular Risk and Prevention of Cardiovascular Disease in Women with the Polycystic Ovary Syndrome: A Consensus Statement by the Androgen Excess and Polycystic Ovary Syndrome (AE-PCOS) Society
  17. Body Composition Is Improved During 12 Months' Treatment With Metformin Alone or Combined With Oral Contraceptives Compared With Treatment With Oral Contraceptives in Polycystic Ovary Syndrome
  18. Influences of weight, body fat patterning and nutrition on the management of PCOS

26: Antenatal Steroids - Part 2

In this episode Dr. Øystein Bergøy discusses the evidence behind the risks of antenatal corticosteroids for women at risk for preterm delivery. 




25: Antenatal Steroids - Part 1

23: The Monthly Checkup - August 2017

Please consider giving to www.breac225.org to help support the victims of Hurricane Harvey.

In this episode we discuss the link between baby powder and ovarian cancer, the effect of breastfeeding on endometriosis, and the long term emotional effect of mode of delivery.

  1. Does Baby Powder Cause Cancer? A Jury Says Yes. Scientists Aren't So Sure
  2. History of breast feeding and risk of incident endometriosis: prospective cohort study
  3. The maternal childbirth experience more than a decade after delivery