7/8/13: Jennifer Chen-What’s the difference amongst first screen, sequential screen, and integrated screen for genetic screening in pregnancy?

Information obtained from ACOG Practice Bulletin (No.77: Screening for Fetal Chromosomal Abnormalities) and Williams Obstetrics.
First and second trimester screenings help assess the risk of having fetal aneuploidy, most commonly Trisomy 21, 18, and 13.
The first trimester screen offered btwn 11-14wks includes nuchal translucency, PAPP-A, and free bhCG. The detection rate of Down Syndrome is 82-87%.
The second trimester screen offered btwn 15-20wks consists of the quad screen: inhibin a, estriol, bhCG, and AFP. The triple screen, which does not include inhibin a, is not usually used anymore, just because of the improved detection rate of Down Syndrome from the quad screen (81% vs 69%).
There are a few different approaches to screening. Most commonly used is the integrated, which includes both the first trimester screen+the quad screen, because of its high detection rates, reportedly between 94-96%. The serum integrated is the first trimester screen (minus the NT) +the quad screen. This has a detection rate of 85-88%. With these integrated approaches, the pt will only be offered invasive testing after the second trimester screening, which means that only amniocentesis (between 15-20wks) can be offered (CVS only offered between 10-13wks) for further diagnostic work-up.
Another approach is to first perform the first trimester screen without waiting for the second trimester screen to assess the risk. For the stepwise sequential method, if the first trimester screen results return positive, invasive testing is offered. However, if the results return negative, only then is second-trimester testing offered. Detection rates are 95% with stepwise sequential method. With the contingent sequential method, the first trimester test results are stratified into 3 categories: positive, negative, and intermediate/equivocal. If the result is positive, diagnostic testing is offered. If negative, no further testing is done. If intermediate, second-trimester testing if offered. This gives a detection rate of 88-94%.genetic screening-ACOG pb077

Advertisements

7/21/13: Jeanine Staples: How do you categorize and evaluate various mullerian anomalies?

Embryology Background: In women, the mullerian (paramesonephric) duct system is stimulated to develop preferentially over the wolffian (mesonephric) duct system, which ultimately regress. The mullerian ducts first appear lateral to each wolffian duct as invaginations of the dorsal coelomic epithelium. Each form a solid bud, and both buds elongate eventually forming a lumen in the cranial part and extending gradually caudally. They eventually meet midline and become fused together in the urogenital septum, including the fallopian tubes, uterus and upper 1/3 of vagina. The septum gradually disappears and the most cranial part of the mullerian ducts remain separate and form the fallopian tubes. The mullerian tubercle is most caudal portion of fusion and is point of contact between mullerian duct and urogenital sinus. The phallic portion of the urogenital sinus gives rise to the urethera. Lower 2/3 of vagina form from lateral endodermal evaginations (sinovaginal bulbs) from the posterior aspect of the urogenital sinus. The labia minora and majora develop from the labioscrotal folds (ectodermal).
Rock JA, Breech LL. Surgery for anomalies of the mullerian ducts. In: Rock JA, Jones HW, editors. Telinde’s operative gynecology. 10th ed. Philadelphia: Kluwer/Lippincott Williams and Wilkins; 2008. p. 539–84.

American Fertility Society Classification of Uterovaginal Anomalies from the American Fertility Society. Classification of mullerian anomalies. Fertil Steril 1988; 49:944
Class I: Dysgenesis of the Mullerian Ducts
– Including agenesis of the uterus and vagina (Mayer-Rokitansky-Kuster-Hauser Syndrome)
– Normal ovarian function, including ovulation
– No reproductive potential other than by IVF in a host uterus
– CLINICAL CONSIDERATIONS: Important to offer these patients psychological support; Goal of corrective therapy is to restore normal sexual function via creation of a neovagina by McIndoe vaginoplasty; Also, nonsurgical creation with vaginal dilation may be effective in up to 90% of individuals
Edmonds DK, Rose GL, Lipton MG, Quek J. Mayer-Rokitansky-Kuster-Hauser syndrome: a review of 245 consecutive cases managed by a multidisciplinary approach with vaginal dilators. Fertil Steril 2012;97:686–90.
ACOG Committee Opinion No 562. May 2013. Mullerian Agenesis: Diagnosis, Management and Treatment.
Rock JA, Breech LL. Surgery for anomalies of the mullerian ducts. In: Rock JA, Jones HW, editors. Telinde’s operative gynecology. 10th ed. Philadelphia: Kluwer/Lippincott Williams and Wilkins; 2008. p. 539–84.

Class II: Disorders of Vertical Fusion of the Mullerian Ducts
– Fault in the junction between down-growing mullerian ducts and the up growing derivative of the urogenital sinus
– Incomplete cavitation of the vaginal plate
– Characterized by atretic portion of vagina or limited to a small obstructing membrane
– Regarded as an imperforate hymen or transverse vaginal septum and classified as either obstructed or unobstructed
– Cervical agenesis or dysgenesis is included
– CLINICAL CONSIDERATIONS for imperforate hymen: incidence 1:1000-1:16000; Cyclic pelvic pain due to hematocolpos, hematometria or hematosalpinx; bulging hymeneal membranes; Rx – cruciate incision
– CLINICAL CONSIDERATIONS for transverse vaginal septum: incidence 1:21000-1:72000; Cyclic pain as above, blind-ending pouch with no bulging at outlet; 19% in lower third of vagina, 35% in middle third, and 46% in upper third; Rx – aspirate fluid, transverse incision to identify cervix, indwelling stent
– CLINICAL CONSIDERATIONS: Magnetic resonance imaging has 96–100% accuracy in classifying uterine anomalies, while transvaginal ultrasound has 85–92%, and hysterosalpingography has 6–55%.

Rock JA, Breech LL. Surgery for anomalies of the mullerian ducts. In: Rock JA, Jones HW, editors. Telinde’s operative gynecology. 10th ed. Philadelphia: Kluwer/Lippincott Williams and Wilkins; 2008. p. 539–84.

Westerhout FC, Hodgman JE, Anderson GV et.al. Congenital hydrocolpos. Am J Obstet Gynecol. 1964;89:957-61

Class III: Disorders of Lateral Fusion of the Mullerian Ducts (most common; results from failure of formation of one mullerian duct, migration of a duct, fusion of the mullerian ducts, or absorption of the intervening septum) ***There is confusion in the literature about which anomalies are more often associated with obstetric difficulties and which are relatively benign in their effect
A. Asymmetric-obstructed disorder of uterus or vagina usually associated with ipsilateral renal agenesis (1. Unicornuate uterus with a noncommunicating rudimentary horn, 2. Unilateral obstruction of cavity of a double uterus, 3. Unilateral vaginal obstruction associated with double uterus)
-Herlyn-Werner-Wunderlich syndrome-HWWS is a rare congenital Müllerian anomaly consisting of uterus didelphys, hemivaginal septum and ipsilateral renal agenesis
CLINICAL CONSIDERATIONS: may have dysmenorrheal, abdominal pain, vaginal masses, intermittent foul odor, muco-purulent discharge or endometriosis; Diagnosis with U/S, HSG or MRI; Rx – excision of septum or excision of obstructed uterine horn to prevent endometriosis or pregnancy in the rudimentary horn
B. Symmetric – may be obstructed or unobstructed
1. Didelphic uterus with complete, partial or no longitudinal vaginal septum
CLINICAL CONSIDERATIONS: Conflicting opinions regarding pregnancy outcomes; Surgery of choice would be metroplasty, but this procedure is difficult in a complete didelphic anomaly and can result in cervical incompetence or cervical stenosis.
-Septated vagina may occur in 75% of cases, causing difficulty with intercourse or vaginal delivery; Rx – if vaginal septum present, resection of septum is appropriate via metroplasty or hysteroscopic resection
2. Complete or partial septate uterus (normal external surface, require laparoscopy to diagnose) with complete, partial, or no longitudinal vaginal septum
CLINICAL CONSIDERATIONS: septum can cause infertility or recurrent midtrimester loss; Rx – resection of septum shown to improve pregnancy success in patients with a history of recurrent pregnancy loss
3. Complete or partial bicornuate uterus (fundus indented, need laparoscopy to diagnosis) with complete, partial, or no longitudinal vaginal septum
CLINICAL CONSIDERATIONS: minimal reproductive problems but may have pregnancy loss or PTL; Rx – Strassman metroplasty in select women with bicornate uterus who have experienced recurrent pregnancy loss or preterm delivery
4. T shaped uterine cavity (DES related)
5. Unicornuate uterus with or without rudimentary horn; the rudimentary horn may or may not have endometrial cavity; said cavity may or may not be communicating
CLINICAL CONSIDERATIONS: essentially normal reproductive potential although high risk for infertility, endometriosis, PTL, and breech presentations; If rudimentary horn is obstructed, patient may develop cyclic pain and may require surgical excision of the obstructed horn
Rock JA, Breech LL. Surgery for anomalies of the mullerian ducts. In: Rock JA, Jones HW, editors. Telinde’s operative gynecology. 10th ed. Philadelphia: Kluwer/Lippincott Williams and Wilkins; 2008. p. 539–84.

Class IV: Unusual configurations of vertical-lateral fusion defects
– unusual utero-vaginal configurations that do not fit a particular category
– coexistance of vertical and lateral fusion abnormalities

Rock JA, Breech LL. Surgery for anomalies of the mullerian ducts. In: Rock JA, Jones HW, editors. Telinde’s operative gynecology. 10th ed. Philadelphia: Kluwer/Lippincott Williams and Wilkins; 2008. p. 539–84.

2/14/13: Can you name which progestins belong to which generation?

Sometimes progestins are classified by generation:

2/6/13: Wendy Medina MS III-What are congenital cystic adenomatoid malformations?

Congenital cystic adenomatoid malformations are lung abnormalities produced during development. They are defined as non-functioning cystic areas that develop from the proliferation of terminal respiratory bronchioles, but cause a reduction in alveolar growth. There are five different types of lesions that are classified by size and site of origin. Type 0 is the rarest form, arises from the trachea or bronchus and is small in size. Type 1 is the most common, arises from the distal bronchus, and can vary from 3 cm to 10 cm in size. Type 2 arise from the terminal bronchioles and measure from 0.5 to 2 cm. Type 3 arises from acinar-like tissue and are so small that they appear solid. Type 4 is alveolar in origin, large (up to 10 cm), and is associated with malignancies like pleuropulmonary blastomas.

 

Sfakianaki, AK, Copel JA. Congenital Cystic Lesions of the Lung: Congenital Cystic Adenomatoid Malformation and Bronchopulmonary Sequestration.Rev Obstet Gynecol 2012; 5(2): 85–93.

2/6/13: Wendy Medina MS III-What are the first basic steps in the management of a patient with recurrent late decelerations on a fetal heart tracing?

Management of recurrent late decelerations is aimed at improving maternal oxygenation and circulation to the uterus and placenta. Common standards of care include IV fluids, maternal repositioning, reducing uterine activity, oxygen administration, and/or correcting maternal hypotension.

Maternal repositioning to the left or right lateral position is a form of reducing the compression of inferior vena cava and improving flow to the uterus and placenta. Reducing uterine activity by stopping all labor stimulating agents decreases the interruption of blood flow to the intervillous space. It is important to monitor maternal blood pressure for hypotension secondary to dehydration or epidural administration. If hypotension is present an IV fluid bolus is given and ephedrine or phenylephrine in the case of epidural induced hypotension.

Research has shown that the best combination to increase fetal oxygenation saturation levels is 500 to 1000 mL of lactated Ringers solutions given over 20 minutes for IV hydration, a lateral versus supine position and the use of a non-rebreather mask administering supplemental oxygen at 10 L/min.

 

Cunningham FG, Leveno KJ, Bloom SL, Hauth JC, Rouse DJ, Spong CY. Chapter 18. Intrapartum Assessment. In: Cunningham FG, Leveno KJ, Bloom SL, Hauth JC, Rouse DJ, Spong CY, eds. Williams Obstetrics. 23rd ed. New York: McGraw-Hill; 2010. http://www.accessmedicine.com/content.aspx?aID=6024239. Accessed February 3, 2013.

 

Simpson KR, James DC. Efficacy of intrauterine resuscitation techniques in improving fetal oxygen status during labor. Obstet Gynecol 2005; 105:1362-8.

2/6/13: Wendy Medina MS III: What are the most common causes of postpartum hemorrhage?

Postpartum hemorrhage (PPH) is an obstetrical emergency that is defined as the blood loss in excess of 500 ml after a vaginal delivery and more than 1000ml after a cesarean section. In 2010, a nationwide study focused on deliveries identified uterine atony as the number one cause of PPH.  Uterine atony is the failure of uterus to contract after a delivery. Common risks factors for the development of uterine atony includes prior postpartum hemorrhage, high parity, labor initiated or augmented with oxytocics, hastening of placental delivery, large fetus size, multiple fetuses, and hydramnios.

 Other etiologies of postpartum hemorrhage included trauma to the genital tract, retention of placental tissue, and coagulopathies. Trauma to the genital tract is usually secondary to large episiotomies, lacerations to the perineum, vagina or cervix or rupture of the uterus.

 

Bateman BT, Berman MF, Riley LE, Leffert LR. The epidemiology of postpartum hemorrhage in a large, nationwide sample of deliveries. Anesth Analg 2010; 110(5):1368-73.

 

Cunningham FG, Leveno KJ, Bloom SL, Hauth JC, Rouse DJ, Spong CY. Chapter 35. Obstetrical Hemorrhage. In: Cunningham FG, Leveno KJ, Bloom SL, Hauth JC, Rouse DJ, Spong CY, eds. Williams Obstetrics. 23rd ed. New York: McGraw-Hill; 2010. http://www.accessmedicine.com/content.aspx?aID=6034497. Accessed February 3, 2013.

 

2/16/12-Jitsen Chang-How do you follow-up patients after a suction dilation and curettage for miscarriage, when the pathology comes back, “products of conception with hydropic changes”?

Differential Diagnosis:
1. spontaneous abortion
2. complete molar pregnancy
3. partial molar pregnancy
This is important given the different follow-up for each of these diseases.
Two follow-up tests can be ordered:
1. karyotype – this will rule out triploidy, which would rule out a partial molar pregnancy
2. p57 immunohistochemistry stain – p57 only stains maternal DNA, since complete moles are the product of androgenesis and thus only have paternal DNA, p57 will not stain partial molar pregnancies.
triploid + p57 positive -> partial molar pregnancy
diploid + p57 negative -> complete molar pregnancy
diploid + p57 positive -> spontaneous/missed abortion
Jitsen Chang

2/14/12: Yoni Mahller-Should a surgery be canceled if the patient has a URI on the day of her surgery?

Appears to be a mixed bag, but most anesthesiologists dont cancel surgery for URI in kids.


Most of the literature is focused on children, who do seem to have higher rates of mild desaturation and lyrngospasm with intubation when they concurrently have a URI.  There are not very many studies regarding the impact of URI in adults and the effects of anesthesia and intubation.

Frequency and severity of desaturation events during general anesthesia in children with and without upper respiratory infections 

  • Norbert Rolf, MD,
  • Charles J. Coté, MDCorresponding author contact information,
  • Department of Anesthesia, Massachusetts General Hospital, Boston, MA USA
  • Received 28 March 1991. Accepted 2 October 1991. Available online 2 April 2004.
Abstract
Study Objective: To determine whether anesthesia in the presence of a, mild upper respiratory infection (URI) was associated with episodes of desaturation or reactive airway problems.
Design: A prospective study.
Setting: Inpatient and outpatient units of a university medical center.
Patients: Four hundred two pediatric patients.
Interventions: Patients were monitored with continuous recordings of oxygen saturation saturation (SpO2), capnography, and electrocardiogram. A separate anesthesiologist was present throughout each case to observe for complications and interview the anesthesia team. The decision to anesthetize patients with a URI was left to the discretion of the anesthesia team.
Measurements and Main Results: Thirty patients with a URI and 372 patients without one were studied. One hundred ninety-six patients were managed with endotracheal intubation and 206 with face mask; 15 in each group had a URI. There was no increase in major desaturation events (SpO2 of 85%, or less for 30 or more seconds) but minor desaturation events (SpO2 pf 95% or less for 60 or more seconds) were increased (p = 0.02). There was no increased frequency of laryngospasm (1 in 30 vs. 22 in 372), but there was a higher frequency of bronchospasm in incubated patients (2 in 15 vs. 1 in 181; p = 0.016).
Conclusions: Children with a mild URI have an increased frequency of minor desaturation episodes, and incubated patients with a URI have an increased frequency of bronchospasm. It appears that children with a mild URI may be safely anesthetized, since the problems encountered are generally easily treated and without long-term sequelae.
Yonatan Y. Mahller, MD, PhD
PGY 3
Obstetrics and Gynecology
Cedars-Sinai Medical Center