Objective: To investigate the clinical characteristics and maternal and fetal prognosis of pregnant women with acute fatty liver of pregnancy (AFLP). Methods: The clinical data of 86 AFLP pregnant women admitted to the Third Affiliated Hospital of Guangzhou Medical University from September 2017 to August 2022 were collected, and their general data, clinical characteristics, laboratory tests and maternal and fetal outcomes were retrospectively analyzed. Results: (1) General information: the age of the 86 pregnant women with AFLP was (30.8±5.4) years, and the body mass index was (21.0±2.5) kg/m². There were 50 primiparas (58.1%, 50/86) and 36 multiparas (41.9%, 36/86). There were 64 singleton pregnancies (74.4%, 64/86) and 22 twin pregnancies (25.6%, 22/86). (2) Clinical characteristics: the main complaints of AFLP pregnant women were gastrointestinal symptoms, including epigastric pain (68.6%, 59/86), nausea (47.7%, 41/86), anorexia (46.5%, 40/86), vomiting (39.5%, 34/86). The main non-gastrointestinal symptoms were jaundice of skin and/or scleral (54.7%, 47/86), edema (38.4%, 33/86), fatigue (19.8%, 17/86), bleeding tendency (16.3%, 14/86), polydipsia or polyuria (14.0%, 12/86), skin itching (8.1%, 7/86), and 17.4% (15/86) AFLP pregnant women had no obvious symptoms. (3) Laboratory tests: the incidence of liver and kidney dysfunction and abnormal coagulation function in AFLP pregnant women was high, and the levels of blood ammonia, lactate dehydrogenase and lactic acid were increased, and the levels of hemoglobin, platelet and albumin decreased. However, only 24 cases (27.9%, 24/86) of AFLP pregnant women showed fatty liver by imageology examination. (4) Pregnancy outcomes: ① AFLP pregnant women had a high incidence of pregnancy complications, mainly including renal insufficiency (95.3%, 82/86), preterm birth (46.5%, 40/86), hypertensive disorders in pregnancy (30.2%, 26/86), gestational diabetes mellitus (36.0%, 31/86), fetal distress (24.4%, 21/86), pulmonary infection (23.3%, 20/86), disseminated intravascular coagulation (16.3%, 14/86), multiple organ dysfunction syndrome (16.3%, 14/86), hepatic encephalopathy (9.3%, 8/86), and intrauterine fetal death (2.3%, 2/86). ② Treatment and outcome of AFLP pregnant women: the intensive care unit transfer rate of AFLP pregnant women was 66.3% (57/86). 82 cases were improved and discharged after treatment, 2 cases were transferred to other hospitals for follow-up treatment, and 2 cases (2.3%, 2/86) died. ③ Neonatal outcomes: except for 2 cases of intrauterine death, a total of 106 neonates were delivered, including 39 cases (36.8%, 39/106) of neonatal asphyxia, 63 cases (59.4%, 63/106) of neonatal intensive care unit admission, and 3 cases (2.8%, 3/106) of neonatal death. Conclusions: AFLP is a severe obstetric complication, which is harmful to mother and fetus. In the process of clinical diagnosis and treatment, attention should be paid to the clinical manifestations and laboratory tests of pregnant women, early diagnosis and active treatment, so as to improve maternal and fetal outcomes.
Pregnancy ; Infant, Newborn ; Female ; Humans ; Adult ; Retrospective Studies ; Premature Birth/epidemiology* ; Pregnancy Complications/diagnosis* ; Fatty Liver/diagnosis* ; Fetal Death ; Stillbirth

OBJECTIVE: To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD). METHODS: Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq). RESULTS: The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23⁺⁴ weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq. CONCLUSION T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.
Female ; Humans ; Pregnancy ; Amniocentesis ; Chromosomes, Human, Pair 2/genetics* ; DNA Copy Number Variations ; Fetal Death ; Fetal Growth Retardation/genetics* ; Fetus ; Mosaicism ; Oligohydramnios ; Placenta ; Trisomy/genetics* ; Uniparental Disomy/genetics*

Objective: To investigate the treatment and maternal and fetal outcomes of pregnant women with aortic dissection (AD). Methods: The clinical data of 11 pregnant women with AD treated at the First Affiliated Hospital of Air Force Military Medical University from January 1st, 2011 to August 1st, 2022 were collected, and their clinical characteristics, treatment plans and maternal and fetal outcomes were analyzed retrospectively. Results: (1) Clinical characteristics: the age of onset of 11 pregnant women with AD was (30±5) years old, and the week of pregnancy of onset was (31.4±8.0) weeks. Clinical manifestations: the main symptoms were sudden onset of chest and back pain or low back pain. Type of AD: 8 cases of Stanford type A, and 3 cases of type B. The aortic width was (42±11) mm. Diagnostic methods: the diagnosis of AD was confirmed by transthoracic echocardiography (TTE), computed tomography angiography (CTA) or enhanced CT examination, among which 4 cases were confirmed by CTA examination, 4 cases by TTE examination, and 3 cases by enhanced CT examination. Laboratory results: white blood cell count was (15.4±8.7) ×10⁹/L, neutrophil count was (13.5±8.5) ×10⁹/L, the median D-dimer level was 2.7 mg/L (2.1-9.2 mg/L), and the median fibrin degradation products level was 12.0 mg/L (5.4-36.1 mg/L). (2) Treatments: all 11 patients were admitted to hospital in emergency. Before operation, the departments of cardiac surgery, obstetrics, pediatrics and anesthesiology cooperated to develop individualized treatment plan. Aortic surgery was performed in 11 pregnant women with AD. In 6 of them, pregnancy termination was performed at the same time as aortic surgery, and aortic surgery was performed after cesarean section. Four cases of pregnancy termination and aortic operation were performed by stages, including aortic operation after cesarean section in 2 cases, and cesarean section after aortic operation in 2 cases. One case (12⁺⁶ weeks of gestation) had spontaneous abortion on the day after aortic surgery. The gestational age of the 11 patients on pregnancy termination was (32.9±7.4) weeks. Aorta surgical methods: 7 patients received under extracorporeal circulation ascending aorta replacement ± aortic valve replacement ± coronary artery transplantation (or coronary artery bypass transplantation)± left and right coronary Cabrol + total arch replacement (or aortic arch replacement)± stent implantation, 1 patient received under extracorporeal circulation aortic root replacement, and 3 patients underwent aortic endoluminal isolation. (3) Maternal and fetal outcomes: among the 11 pregnant women with AD, 9 (9/11) survived, 2 (2/11) died with lower limb ischemia before the onset of the disease. A total of 10 newborns were born in 9 pregnant women after delivery (1 of them was twins), and the 2 cases were spontaneous abortion after aortic surgery in the first trimester (12⁺⁶ weeks) and fetal death after hysterotomy in the second trimester (26⁺³ weeks), respectively. Among the 10 surviving neonates, 3 were full-term infants and 7 were premature infants. The birth weight of newborn was (2 651±784) g. Respiratory distress syndrome was found in 6 cases. The newborns were followed up for (5.6±3.6) years after birth, and the infants developed well during the follow-up period. Conclusions: Pregnancy complicated with AD is dangerous, and chest and back pain is the main clinical manifestation of this disease. With early identification and selection of appropriate diagnostic methods, multidisciplinary diagnosis and treatment, mother and children could obtain good outcomes.
Infant ; Pregnancy ; Infant, Newborn ; Humans ; Female ; Child ; Adult ; Abortion, Spontaneous ; Cesarean Section ; Retrospective Studies ; Aortic Dissection/surgery* ; Fetal Death

Objective: To summarize the clinicopathological factors related to perinatal fetal death and to evaluate importance of fetal autopsy and placental pathology. Methods: The clinicopathological data of 105 perinatal fetal deaths in Beijing Haidian Maternal and Child Health Hospital from November 2012 to December 2020 were retrospectively analyzed. Relevant literature was also reviewed. Results: The maternal age of the deceased fetuses ranged from 22 to 43 years with the average (31.35±4.04 years), and the gestational weeks were 28-40⁺⁶ weeks. Among them, 101 were singleton cases and 4 twin cases. 103 fetuses died in uterus and 2 died during delivery. Relevant factors analysis of the 105 perinatal fetal deaths showed that 86 cases (81.9%, 86/105) were related to umbilical cord/placental abnormality, 10 cases (9.5%, 10/105) uterine infection, 6 cases (5.7%, 6/105) fetal factors, 1 case was fetal maternal blood transfusion syndrome, 1 case twin blood transfusion syndrome, and 1 case died of complete uterine rupture. Among the 86 cases related to umbilical cord/placental abnormality, the diagnosis was most often based on the gross examination of placenta. The most common cause of death was umbilical cord torsion with thin root, followed by placental abruption, tight umbilical cord winding, vascular rupture and umbilical cord true knot. The morphology of placenta revealed mainly functional changes. Among the 10 cases related to intrauterine infections, the placenta generally showed lobular placental edema. The morphological characteristics of ascending infection were mainly acute chorioamnionitis, and the morphological characteristics of blood-borne infection were mainly acute or chronic villitis, as well as villous interstitial inflammation. Identification of viral inclusions suggested viral etiology, while the final diagnosis was relied on laboratory testing. Among the 6 cases related to fetal abnormality, the diagnostic value of placenta was limited and the diagnosis could be made with fetal autopsy. Conclusion: The causes of perinatal fetal death are complex, diverse, and often the synergistic result of multiple factors. Fetal autopsy and placental pathology are the key technical means to identify the cause of death and deserve more attention and utilization.
Adult ; Autopsy ; Child ; Female ; Fetal Death/etiology* ; Fetus/pathology* ; Gestational Age ; Humans ; Placenta/pathology* ; Pregnancy ; Retrospective Studies ; Young Adult

Spontaneous rupture of the ovarian artery is very rare and can cause retroperitoneal hemorrhage, which is seriously life-threatening. Herein, we reported a case of massive retroperitoneal hematoma caused by spontaneous rupture of the right ovarian artery during pregnancy and intrauterine fetal death. A 32-year-old woman, gravida 6 para 5, had non-specific right lower abdomen and low back pain in the third trimester. Emergency cesarean section was performed due to the increased pain and decreased fetal heart rate. A huge retroperitoneal hematoma and intrauterine fetal death were found. Then, the abdomen was closed due to unknown source of bleeding and unstable vital signs. Computed tomography scan was conducted to clarify the extent of the retroperitoneal hematoma. Digital subtraction angiography confirmed the rupture of the right ovarian artery. A transcatheter artery embolization was successfully performed to control the bleeding. The patient ultimately recovered well after surgery.
Pregnancy ; Humans ; Female ; Adult ; Rupture, Spontaneous ; Cesarean Section ; Fetal Death ; Arteries

BACKGROUND: The purpose of this study was to determine prognostic factors that can affect the fetal survival immediate after fetoscopic laser ablation. METHODS: The study population consisted of consecutive twin pregnant women who underwent fetoscopic laser ablation with the diagnosis of twin to twin transfusion syndrome (TTTS) from 2011 to 2018 in Seoul National University Hospital. Fetal survival immediate after procedure was defined as survival to 48 hours after procedure and neonatal survival was defined as survival to 28 days of life. Clinical characteristics and ultrasound findings were compared according to the fetal survival immediate after procedure. RESULTS: A total of 57 pregnant women with TTTS were included, and the overall fetal survival immediate after procedure was 71.1% (81/114) after fetoscopic laser ablation. Fetuses who survived immediate after procedure had higher gestational age at procedure and lower frequency of abnormal Doppler studies than those did not survive. However, the frequency of hydrops was not different between cases with fetal survival and those with fetal death. The earlier gestational age at procedure and the presence of abnormal Doppler studies were significant risk factors for fetal death even after adjustment. CONCLUSION: Based on this data, the fetal survival immediate after procedure (fetoscopic laser treatment) in TTTS can be affected by the gestational age at procedure and the presence of abnormal Doppler studies.
Diagnosis ; Edema ; Female ; Fetal Death ; Fetofetal Transfusion* ; Fetus ; Gestational Age ; Humans ; Laser Therapy* ; Pregnancy ; Pregnant Women ; Risk Factors ; Seoul ; Twins* ; Ultrasonography

OBJECTIVE: To investigate the short-term prognosis of the co-twin who survives after single intrauterine fetal demise (sIUFD). METHODS: A total of 52 infants who survived after sIUFD were enrolled as the case group, and 104 twins, matched for gestational age, from a pair of live-born twins without sIUFD were enrolled as the control group. Related clinical data were compared between the two groups. RESULTS: Among the 52 infants who survived after sIUFD, 42 (80.8%) were preterm infants, 13 (25.0%) had brain injury, and 3 (5.8%) died in the neonatal period. Compared with the control group, the case group had significantly higher incidence rates of meconium stained amniotic fluid/bloody amniotic fluid/polyhydramnios/hypamnion, torsion of cord/nuchal cord, and placenta previa/placenta abruption, as well as significantly higher incidence rates of birth asphyxia, anemia or polycythemia at birth, and coagulation disorder at birth (P<0.05). The case group also had significantly higher incidence rates of nosocomial infection and brain injury than the control group during hospitalization (P<0.05). CONCLUSIONS There is an increase in the incidence rate of complications in the co-twin who survives after sIUFD. Prenatal evaluation and long-term follow-up should be performed for the surviving co-twin.
Female ; Fetal Death ; Humans ; Infant, Newborn ; Infant, Premature ; Pregnancy ; Pregnancy Outcome ; Prognosis ; Twins

Acute fatty liver of pregnancy (AFLP) is unusual but can potentially progress to overwhelming liver failure, resulting in maternal and fetal death. AFLP is characterized by the accumulation of microvesicular fat within hepatocytes. We report the case of a 37-year-old woman at 36 weeks' gestation with a twin pregnancy who was admitted with the diagnosis of intrauterine fetal death of one baby. The patient showed profile of AFLP on her laboratory findings and underwent emergency cesarean section. Then she progressed to cryptogenic fulminant hepatic failure and underwent successful orthotopic liver transplantation on 9th day of admission. This case demonstrates that liver transplantation is a feasible therapeutic option for the treatment of patients with this condition.
Adult ; Anesthesia, General ; Cesarean Section ; Diagnosis ; Emergencies ; Fatty Liver ; Female ; Fetal Death ; Hepatocytes ; Humans ; Liver Failure ; Liver Failure, Acute ; Liver Transplantation ; Liver ; Pregnancy ; Pregnancy, Twin

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.
Abortion, Spontaneous ; Abruptio Placentae ; Activated Protein C Resistance ; DNA ; Factor V ; Female ; Fetal Death ; Fetal Growth Retardation ; Hemostatic Disorders ; Humans ; Pregnancy Complications ; Pregnancy ; Pregnant Women ; Thrombophilia

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to motor neuron degeneration. We identified an infant with SMARD1 by targeted exome sequencing from a consanguineous Syrian family having a history of recurrent infant deaths. The patient initially presented intrauterine growth retardation, poor sucking, failure to thrive, and respiratory failure at the age of two months, and an inborn error of metabolism was suspected at first. Over a period of one month, the infant showed rapid progression of distal muscular weakness with hand and foot contractures, which were suggestive of neuromuscular disease. Using targeted exome sequencing, the mutation in IGHMBP2 was confirmed, although the first report was normal. Targeted exome sequencing enabled identification of the genetic cause of recurrent mysterious deaths in the consanguineous family. Additionally, it is suggested that a detailed phenotypic description and communication between bioinformaticians and clinicians is important to reduce false negative results in exome sequencing.
Carrier Proteins ; Contracture ; Exome ; Failure to Thrive ; Fetal Growth Retardation ; Foot ; Hand ; Humans ; Immunoglobulins ; Infant Death ; Infant ; Metabolism ; Motor Neurons ; Muscle Weakness ; Muscular Atrophy, Spinal ; Neuromuscular Diseases ; Respiratory Insufficiency