A Review of Outcomes in Pregnant Women with Portal Hypertension

Background

The course of pregnancy in a woman with portal hypertension is a difficult one as it is associated with complications like variceal bleeding, splenic artery rupture and coagulopathy. All these pose a threat to a woman’s life. Although this condition is rare, every obstetrician should have a high index of suspicion when an antenatal mother presents with splenomegaly, thrombocytopenia or hematemesis. Hence, we aimed to review maternal and fetal outcomes in pregnant women with portal hypertension.

Methods

In a retrospective observational study, 41 women and 47 pregnancies were evaluated, from January 2000–December 2015 at Fernandez Hospital, a tertiary referral perinatal center. Maternal outcomes studied were variceal bleed during pregnancy, surgical procedures, morbidity and mortality. Neonatal variables were gestational age at delivery, birth weight and morbidities.

Results

Mean maternal age was 26.4 years. Average gestational age at delivery was 36.5 weeks. Mean birth weight was 2507.5 g. There were three maternal deaths out of 47 deliveries, the cause of death was massive variceal bleed in one, the second one was due to cardiac arrest on MRI table, and the third death was due to splenic hilar vessel bleed. There was one stillbirth, and no neonatal deaths.

Conclusion

A multidisciplinary approach is essential to improve perinatal outcomes in pregnancy complicated by portal hypertension. Surgical measures to reduce portal venous pressure done before pregnancy or beta blockers during pregnancy might help reduce sudden variceal bleeds.

     

Umbilical hemangioma: a case report

Introduction

Umbilical cord tumors are extremely rare with hemangiomas and teratomas accounting for the most common tumors.

Case report

A 26-year-old woman had an anomaly scan at 22 weeks. There was an echogenic area in the umbilical cord, the mass, which appeared enlarged and oedematous findings represented an umbilical cord hemangioma, but no fetal abnormalities (Fig. 1). The second ultrasound examination for follow-up showed that the fetus was dead. The macerating fetus (46XY) weighing 650 g was autopsied, and the report confirmed umbilical cord hemangioma and no significant congenital abnormalities (Figs. 2, 3).

Discussion

A high perinatal mortality and morbidity rate has been reported with hemangiomas of umbilical cord. Impaired umbilical circulation is considered as the predisposing factor for fetal demise. It is associated with premature delivery, cardiac failure, severe fetal hemorrhage, IUGR and intrauterine death. The differential diagnosis of umbilical cord hemangioma should include hematomas, varices, aneurysms, thrombosis and tumors. Close antenatal follow-up is mandatory, with serial USS examinations, which should involve AFI, tumor size and Doppler studies. The examination should be at 4 weeks intervals up to 32–34 weeks and every 1–2 weeks thereafter depending on the findings.

Conclusion

The prenatal diagnosis of umbilical cord hemangioma should be suspected when an echogenic mass is visualized within the umbilical cord.

     

Successful treatment of acute promyelocytic leukemia in pregnancy with single-agent all-trans retinoic acid

Purpose

The diagnosis of acute promyelocytic leukemia (APL) in pregnancy is an uncommon, life-threatening emergency. Choice of treatment and management of complications are challenging.

Methods

We report the case of a patient with diagnosis of APL at gestational age (GA) 24 + 4. We describe the interdisciplinary management during pregnancy and delivery and provide a 2-year follow-up. Existing reports on APL in pregnancy are summarized.

Results

Single-agent induction therapy with all-trans retinoic acid (ATRA) was started and resulted in normalization of blood cell counts after 32 days. Vaginal delivery of a healthy baby occurred at GA 34 + 4. Consolidation therapy consisted of four courses of ATRA and arsenic trioxide (ATO). Less than 100 cases of APL in pregnancy are published. Misdiagnosis as HELLP syndrome with fatal outcome may occur. Combination therapies (ATRA-plus anthracyclines) were used in the majority of reports.

Conclusions

Diagnosis and treatment of APL during pregnancy continues to be a challenge requiring interdisciplinary team work. Single-agent ATRA therapy may evolve as a safe and less-toxic treatment modality.

     

Prenatal Diagnosis of Single Umbilical Artery: Incidence,Counselling and Management in Indian Scenario

Purpose

The objective of this study is to report the incidence of single umbilical artery (SUA) on prenatal diagnosis and formulate protocol for counselling and its management in Indian scenario.

Method

A total of 1024 cases were screened for Single umbilical artery (SUA) between 12 and 20 weeks gestation during the 1 year period from May 2016 to April 2017. Targeted anomaly scan was performed for all cases at 18–20 weeks. Those with additional structural anomalies were subjected to invasive genetic testing. Serial growth monitoring starting from 28 weeks was done.

Results

Out of ten cases diagnosed with SUA, five had isolated SUA. Two out of five cases of isolated SUA developed FGR in third trimester. Out of the remaining, three cases with additional structural anomalies had normal foetal karyotype, whereas other two cases showed chromosomal abnormalities (12pder and trisomy 18).

Conclusion

Targeted anomaly scan is must in all cases of SUA. Invasive genetic testing must be offered in case of associated anomalies. Serial growth monitoring in third trimester is an important part of protocol.

     

Ovarian Masses: Changing Clinico Histopathological Trends

Objective

To study the clinical and histopathological presentation of ovarian masses.

Method

Retrospective analysis of 205 cases from May 2009 to June 2013.

Results

Incidence of ovarian masses was 6.9 %. Among 205 cases, 68 % were neoplastic. Among the neoplasms, 87.8 % were benign, 10 % malignant, and 2.2 % borderline. Mean ages of malignant and benign neoplasm were 41 and 39 years, respectively. 42.9 % malignant tumors presented with non-specific abdominal and constitutional symptoms. Serous cystadenoma was the commonest benign tumor (67 %) followed by Mucinous (19 %) and Dermoid (11.6 %). Most common malignant ovarian tumor was Serous cystadenocarcinoma (42.9 %). Out of the malignant cases, all were primary except one secondary deposit from Non-Hodgkin’s Lymphoma. Only 28.6 % presented at stage I, remaining presented at stage III/IV.

Conclusion

Ovarian neoplasms have twice the incidence of non-neoplasms. Mean age of malignant tumors is decreased. Rising trend in Mucinous cystadenoma is noted.

     

Pregnancy outcome in 162 women with rheumatic diseases: experience of a university hospital in Turkey

Purpose

To evaluate the distribution and the obstetric outcomes of pregnancies with different types of rheumatic diseases managed in our unit.

Methods

Pregnancies of 162 women with rheumatic diseases, seen for their antenatal care at our department for the period between 2013 and 2017 were included in this retrospective clinical study. Obstetric and perinatal outcomes were main outcome measures.

Results

The most encountered rheumatic diseases were SLE (37.7%) followed by Behcet’s disease (20.4%) and rheumatoid arthritis (17.3%) in our series. The mean maternal age was 30.6 ± 5.3 and the rate of nulliparity was 38.3% in the overall group. Disease activation occurred in 14.1% of patients. Mean gestational age at delivery was 37.4 ± 3.1 and mean birth weight was 3004 ± 762 g. Stillbirth, neonatal death, fetal growth restriction, preeclampsia and preterm delivery rates were 1.2, 2.4, 17.3, 7.4 and 17.9%, respectively. Antiphospholipid syndrome had the highest incidences for fetal growth restriction (42.9%), preeclampsia (28.6%) and delivery ≤ 34 gestational weeks (42.9%). Pathologic uterine artery Doppler velocimetry was identified in 15 cases (15/162, 9.3%) in which 10 (66.7%) developed preeclampsia and/or fetal growth restriction during follow-up.

Conclusion

A majority of women with rheumatic diseases have successful pregnancies and deliver healthy babies, with the close and appropriate rheumatological, obstetric and neonatal monitoring.

     

Unscarred Uterine Rupture: A Retrospective Analysis

Introduction

Uterine rupture is a catastrophic obstetrical emergency associated with a significant feto-maternal morbidity and mortality. Many risk factors for uterine rupture, as well as a wide range of clinical presentations, have been identified.

Objectives

To analyze the frequency, predisposing factors, and maternal and fetal outcomes of uterine rupture.

Methods

A retrospective analysis of cases of unscarred uterine rupture was conducted at the Department of Obstetrics and Gynecology, RIMS, Imphal from June 1, 2010 to June 30, 2012.

Results

Our analysis comprised 13 cases. Of these, 30.8 % were booked cases. Most of the cases (46.2 %) were Para 2. Uterine rupture occurred at term in 10 cases. The rupture occurred due to mismanaged labor (30.8 %), the use of oxytocin (23 %), instrumental delivery (15.4 %), obstructed labor (15.4 %), induction by prostaglandin gel (7.7 %), and placenta percreta (7.7 %). Maternal deaths and perinatal deaths were 30.8 and 53.8 %, respectively. Sub-total hysterectomy was done in 8 cases and in 1 patient laparotomy with repair was performed.

Conclusion

Ruptured uterus causes a high risk in patients. An unscarred uterus can undergo rupture even without etiological or risk factors. The patients with mismanaged labor, grand multiparas, and obstructed prolonged labor must be managed by properly trained personnel at a tertiary care center in order to avoid the morbidity or mortality.

     

Cholecystectomy and Hysterectomy: A Least Invasive Approach

Objective

The study is to promote the least invasive approach that combines cholecystectomy and hysterectomy at the same operative sitting so as to provide maximum benefits to women.

Method

A series of 45 women between 40 and 75 years age from year 2001 to 2014 from the private practice of author and colleague surgeons in Mumbai were in need of hysterectomy as well as cholecystectomy for gynecological indication and symptomatic gallstones, respectively. Cholecystectomy was performed laparoscopically by general surgeon and was combined with hysterectomy with or without bilateral salpingo-oophorectomy (BSO) via vaginal route by gynecologist.

Result

The average surgical time was 40 min for laparoscopic cholecystectomy and 32 min for hysterectomy and 40 min for hysterectomy with bilateral salpingo-oophorectomy to 64 min when uteri needed heavy debulking. Total blood loss was approximately less than 50–100 ml for hysterectomy and up to 250 ml for hysterectomy needing fair amount of debulking. Blood loss for laparoscopic cholecystectomy was 10 ml to maximum of 80 ml.

Conclusion

Lesson for both, gynecologists and the surgeons, is to combine these two when required and possible. This provides maximum advantages through minimizing risk of anesthesia and time duration, hospital stay, cost-effectiveness.

     

Fractionated Palliative Pelvic Radiotherapy as an Effective Modality in the Management of Recurrent/Refractory Epithelial Ovarian Cancers: An Institutional Experience

Background

The advent of effective chemotherapeutic agents for ovarian carcinoma has made radical abdomino-pelvic radiation redundant. Nevertheless, palliative pelvic radiotherapy still has a role in palliating local symptoms. However, its effect on progression-free survival (PFS) may be debated.

Aims

To study the outcome of fractionated palliative pelvic radiotherapy in relapsed ovarian cancers in terms of symptom control and PFS.

Methods

Twenty-three patients of ovarian cancers, heavily pretreated with chemotherapy and with recurrent or residual pelvic masses, were planned for palliative pelvic radiotherapy to the dose of 46–50 Gy in 23–25 fractions in 4.5–5 weeks. Symptom control and outcomes have been analyzed.

Results

Post-radiotherapy, abdominal pain was controlled in 15 out of 17 patients (88.2 %), bleeding per vaginum in all 5 patients and vaginal discharge stopped in 4 out of 5 patients (80 %). On follow-up, of 23 patients, 17 (74 %) had progressive disease post-radiation, and median time to disease progression was 10 months (range 1–49). On univariate analysis, increased PFS was observed in patients who received radiation late in their course of disease, those with serous histology, and with lesser disease bulk in pelvis (≤2 cm) prior to radiation initiation.

Conclusion

Fractionated palliative pelvic radiotherapy is an efficient method for symptom palliation in relapsed ovarian cancers. Patients who are heavily pretreated with chemotherapy and have a small-volume pelvic disease may show a prolonged PFS with addition of pelvic radiotherapy. Indications of radiotherapy, however, need to be defined.

     

Clinical characteristics of acute pancreatitis in pregnancy: experience based on 121 cases

Purpose

Acute pancreatitis in pregnancy (APIP) is a rare condition; however, it markedly affects maternal and fetal health. This study aimed to describe the types, clinical characteristics, mortality, and the safety and necessity of gestation termination of acute pancreatitis in pregnancy (APIP).

Methods

We retrospectively reviewed 121 APIP cases in the Gastroenterology Department of The First Affiliated Hospital of Nanchang University. APIP diagnosis were based on 2012 Atlanta Criteria. The correlation between APIP types, severity, biochemical parameters and mortality was analyzed.

Results

The most common symptoms for APIP were abdominal pain (86.8%) and vomiting (73.6%). The most common causes for APIP were gallstone (36.4%) and hypertriglyceridemia (32.2%) and hypertriglyceridemic APIP was correlated with a higher rate for local complication (P = 0.012). Serum calcium level was negatively correlated with the severity of APIP (P < 0.01). The overall maternal and fetal mortality rate were 3.3% (4/121) and 11.6% (14/121), respectively. The severity of APIP was significantly correlated with higher risks for maternal and fetal death (P < 0.01). 72.7% of moderate-to-severe APIP patients underwent Cesarean section to terminate gestation safely.

Conclusion

The most common causes of APIP were gallstone and hypertriglyceridemia. Lower level of serum calcium could be used as an indicator for the severity of the APIP. The severity of APIP was associated with higher risk for neonate asphyxia, and maternal and fetal death.

     

Hypotension due to spinal anesthesia influences fetal circulation in primary caesarean sections

Purpose

Hypotension due to spinal anesthesia is a well-known side effect in pregnant women receiving caesarean section. Little is known about its impact on fetal blood circulation.

Methods

40 women with uncomplicated singleton term pregnancies prepared for caesarean section were prospectively evaluated by Doppler sonography before and immediately after spinal anesthesia.

Results

In 90% of the women, blood pressure significantly decreased after spinal anesthesia and 42.5% of the patients suffered from severe hypotension. We found a significant negative correlation between maternal blood pressure change and the resistant index (RI) of the umbilical artery (r_s = ? 0.376, p = 0.017) and a significant positive correlation between maternal blood pressure and fetal middle cerebral artery.

Conclusion

Healthy fetuses seem to compensate well in situations with decreased uteroplacental blood flow due to maternal hypotension measured by means of RI changes in the fetal umbilical and middle cerebral artery. This raises the question if growth-restricted and/or preterm fetuses are able to compensate similarly or if general anesthesia would be a method of choice.

     

Melanoma arising in an ovarian cystic teratoma: a systematic review of presentation,treatment, and outcomes

Purpose

To assess the clinical presentation, treatment modalities, and outcome of primary melanomas arising in ovarian cystic teratomas (OCT).

Methods

A systematic review on PubMed/MEDLINE was performed on June 5, 2017, to gather data on patients with primary melanomas arising in OCTs. No systematic reviews were identified. Consequently, only case reports and case series of individuals were analyzed. A total of 37 articles met our inclusion criteria, totaling 41 unique patients.

Results

The average age of diagnosis was 51.5 years. In total, 24% of patients were found to have metastatic disease. In total, 56.7% of patients eventually died of their disease, with an average time from diagnosis to death of 9.3 months. Disease recurrence was common, occurring in 65% of patients. The mainstay of treatment was surgical in 100% of the cases. Adjuvant chemotherapy, immunotherapy, and radiation were also used with varying degrees of efficacy.

Conclusions

Malignant melanoma arising in OCT is a rare disease with poor prognosis. The current mainstay treatment is surgical. Potential benefits of targeted therapy, immunotherapy, and chemotherapy remain to be determined. A limitation of this study is that these melanomas have only been published in case reports.

     

CoQ10 increases mitochondrial mass and polarization,ATP and Oct4 potency levels,and bovine oocyte MII during IVM while decreasing AMPK activity and oocyte death

Purpose

We tested whether mitochondrial electron transport chain electron carrier coenzyme Q10 (CoQ10) increases ATP during bovine IVM and increases %M2 oocytes, mitochondrial polarization/mass, and Oct4, and decreases pAMPK and oocyte death.

Methods

Bovine oocytes were aspirated from ovaries and cultured in IVM media for 24 h with 0, 20, 40, or 60 μM CoQ10. Oocytes were assayed for ATP by luciferase-based luminescence. Oocyte micrographs were quantitated for Oct4, pAMPK (i.e., activity), polarization by JC1 staining, and mitochondrial mass by MitoTracker Green staining.

Results

CoQ10 at 40 μM was optimal. Oocytes at 40 μM enabled 1.9-fold more ATP than 0 μM CoQ10. There was 4.3-fold less oocyte death, 1.7-fold more mitochondrial charge polarization, and 3.1-fold more mitochondrial mass at 40 μM than at 0 μM CoQ10. Increased ATP was associated with 2.2-fold lower AMPK thr172P activation and 2.1-fold higher nuclear Oct4 stemness/potency protein at 40 μM than at 0 μM CoQ10. CoQ10 is hydrophobic, and at all doses, 50% was lost from media into oil by ~ 12 h. Replenishing CoQ10 at 12 h did not significantly diminish dead oocytes.

Conclusions

The data suggest that CoQ10 improves mitochondrial function in IVM where unwanted stress, higher AMPK activity, and Oct4 potency loss are induced.

     

Auscultation of the fetal heart in early pregnancy

Introduction

Auscultation of the fetal heart is a common event in antenatal care, in early pregnancy it may be associated with false negative results, which require ultrasound scan to confirm fetal viability.

Methods

We studied 197 women in early pregnancy to determine the gestational age at which the fetal heart can be reliably identified and the factors which determined the accuracy of the test.

Results

The proportion of successful auscultations increased with advancing gestation (p < 0.001). There was no effect of maternal body mass index or the level of midwifery experience.

Conclusion

For a sensitivity of 90%, the fetal heart should be auscultated after 13 week gestation. If a sensitivity of 80% is acceptable the fetal heart can be auscultated after 12 + 1 week gestation.

     

Evaluation of Severe Maternal Outcomes to Assess Quality of Maternal Health Care at a Tertiary Center

Background

Maternal mortality and near-miss index reflect the quality of care provided by a health facility. The World Health Organization recently published near-miss approach where strict near- miss criteria based on markers of organ dysfunction are defined.

Objectives

The aim of the study was to determine the frequency of severe maternal complications, maternal near-miss cases and maternal deaths, to analyze causes of near-miss and maternal mortality and to determine the values of maternal near-miss indicators.

Methods

This was a prospective observational study conducted at a tertiary care centre in North India from January 2012 – March 2013. WHO's near-miss approach was implemented for evaluation of severe maternal outcomes and to assess the quality of maternal health care.

Results

The number of women attending our facility with severe maternal complications was low (205 in 6,767 live births); as a result maternal near-miss ratio (MNMR) was low; 3.98/1,000 live births; Overall Maternal near-miss mortality ratio (MNM:1MD) was also low, 3.37:1, because of strict criterion of labeling near-miss and delay in referral to the hospital. Hypertensive disorder (37.5 %) was the commonest underlying cause for maternal mortality.

Conclusion

Basic implementation of WHO near-miss approach helped in the systematic identification and evidence-based management of severe maternal complications thereby improving the quality of maternal health in a developing country.

     

Screening for Postnatal Depression in a Tertiary Care Hospital

Aim

To determine the need to screen postpartum women for postpartum depression.

Objective

This study was designed to determine the prevalence of an Edinburgh postnatal depression scale (EPDS) score of ≥13 in postpartum mothers and to evaluate the association of different sociodemographic and obstetric factors with postpartum depression.

Design

Prospective cohort study.

Method

1600 postpartum women who delivered a live born at St. John’s Hospital were recruited into the study. Participants were screened for postnatal depression using the EPDS. A risk factor questionnaire that covered key sociodemographic and obstetric factors was also completed by all the subjects. Main Outcome Measure: Prevalence of a score of 13 or higher, on the EPDS.

Results

The prevalence of an EPDS score of ≥13 in our population was 7.5 % (120/1600). Participants with a family history of psychiatric illness, history of domestic abuse, delayed initiation of breastfeeding, and those who gave birth to a female infant were at a significantly higher risk for an EPDS score of 13 or higher, indicating probable postnatal depression. The mode of delivery, NICU admission of the newborn, and history of antenatal complications were not significant risk factors.

Conclusion

Since the prevalence of an EPDS score ≥13 (which is suggestive of PPD) was found in a significant proportion of women, screening for PPD is indicated in all postpartum women to identify and promptly treat these women. Identification of a clear correlation between certain risk factors and PPD will lead to a more prompt diagnosis of PPD.

     

Salpingoscopy: An Adjuvant to Laparoscopy in Evaluation of Infertile Women

Objective

To evaluate salpingoscopic tubal mucosal grading and to find out correlation between laparoscopic external tubal appearance and salpingoscopic mucosal appearance.

Design

Prospective observational study.

Intervention

Salpingoscopy and laparoscopy.

Materials and Methods

Thirty-seven infertile women between 21 and 40 years of age group who attended infertility clinic at IKDRC, Ahmedabad, from May 2015 to August 2015, were enrolled in the study. Laparoscopic tubal morphology was classified as regular, convoluted and hydrosalpinx. Salpingoscopic findings were graded (Grade I–Grade V) according to Brosens classification.

Results

Laparoscopic appearance of tube was regular in 18 (48 %), convoluted in 17 (45.94 %), and hydrosalpinx in 2 (5.4 %) women. Salpingoscopic findings were graded as Grade I in 14 (37.83 %), Grade II in 10 (27.02 %), Grade III in 8 (21.62 %), Grade IV in 3 (8.10 %), and Grade V in 2 (5.4 %) women. Discordance between laparoscopic and salpingoscopic findings, i.e. regular appearance on laparoscopy and Grade III–Grade V appearance on salpingoscopy, was found in 38.88 % women.

Conclusion

Laparoscopy alone might not be sufficient to predict tubal integrity and salpingoscopic endotubal grading may help in infertility treatment selection decisions. Early counselling towards IVF-ET can be encouraged in cases with higher grade.

     

Intracytoplasmic morphologically selected sperm injection (IMSI) does not improve outcome in patients with two successive IVF-ICSI failures

Purpose

Assessment of sperm morphology has been reconsidered since 2001 with the development of motile sperm organelle morphology examination (MSOME). This observation technique that combines high magnification microscopy and the Nomarski interference contrast makes it possible to select spermatozoa with as few vacuoles as possible before microinjection into the oocyte (intracytoplasmic morphologically selected sperm injection, IMSI). More than 10 years after the development of IMSI, the indications of the IMSI technique and its ability to increase pregnancy and/or birthrates (compared with conventional ICSI) are still subject to debate. We aimed to better define the interest of IMSI in the third attempt.

Methods

We assessed the benefit of IMSI by carrying out a retrospective comparative study between IMSI and conventional ICSI during a third ART attempt. Two hundred sixteen couples with two previous ICSI failures were studied between February 2010 and June 2014.

Results

IMSI did not significantly improve the clinical outcomes compared with ICSI, either for implantation (12 vs 10 %), clinical pregnancy (23 vs 21 %), or live birth rates (20 vs 19 %).

Conclusion

This study provides supplementary arguments for not achieving IMSI procedure in the third attempt after two previous ICSI failures.

     

Dienogest Versus Leuprolide Acetate for Recurrent Pelvic Pain Following Laparoscopic Treatment of Endometriosis

Objective

To compare the efficacy and safety of dienogest (DNG) with depot leuprolide acetate (LA) in patients with recurrent pelvic pain following laparoscopic surgery for endometriosis.

Design

Prospective randomized trial.

Setting

Zagazig University hospitals, Egypt.

Patients

Two hundred and forty-two patients with recurrent pelvic pain following laparoscopic surgery for endometriosis.

Intervention

Dienogest (2 mg/day, orally) or depot LA (3.75 mg/4 weeks, intramuscularly) for 12 weeks.

Main Outcome Measures

A visual analogue scale was used to test the intensity of pain before and after the end of treatment.

Results

There was highly significant reduction in pelvic pain, back pain and dyspareunia in both groups with mean of difference in dienogest group (28.7?±?5.3, 19.0?±?4.3 and 20.0?±?3.08 mm, respectively) and in LA group (26.2?±?3.01, 19.5?±?3.01 and 17.9?±?2.9 mm, respectively). The most frequent drug-related adverse effects in dienogest group were vaginal bleeding and weight gain (64.5 and 10.8%, respectively) which were significantly higher than LA group (21.5 and 3.3%, respectively). While the most frequent drug-related adverse effects in LA group were hot flushes and vaginal dryness (46.3 and 15.7%, respectively) which were significantly higher than dienogest group (15.7 and 3.3%, respectively).

Conclusion

Daily dienogest is as effective as depot LA for relieving endometriosis-associated pelvic pain, low back pain and dyspareunia. In addition, dienogest has acceptable safety, tolerability and lower incidence of hot flushes. Thus, it may offer an effective and well-tolerated treatment in endometriosis.

     

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

Background

Preimplantation genetic testing (PGT) requires an invasive biopsy to obtain embryonic material for genetic analysis. The availability of a less invasive procedure would increase the overall efficacy of PGT. The aim of the study was to explore the potential of blastocoele fluid (BF) as an alternative source of embryonic DNA for PGT.

Methods

Collection of BF was performed by aspiration with a fine needle prior to vitrification. BF DNA was subjected to whole-genome amplification (WGA) and analyzed by high-resolution next-generation sequencing (NGS).

Results

A high-quality WGA product was obtained from 8 of 11 (72.7 %) samples. Comparison of matching BF and blastomere samples showed that the genomic representation of sequencing reads was consistently similar with respect to density and regional coverage across the 24 chromosomes. A genome-wide survey of the sample sequencing data also indicated that BF was highly representative of known single gene sequences, and this observation was validated by PCR analyses of ten randomly selected genes, with an overall efficiency of 84 %.

Conclusion

This study provides further evidence that BF is a promising alternative source of DNA for PGT.