There are a few comprehensive genetic studies on autism spectrum disorders (ASD) in India. Children of multiple births are valuable for genomics studies of complex disorders such as ASD. We report whole-exome sequencing (WES) in a triplet family in which only one among the triplet has ASD. The objective of this study was to identify potential candidate genes for ASD. Exome DNA was enriched using a twist human customized core exome kit, and paired-end sequencing was performed. Proband-specific de novo variants included 150 single nucleotide polymorphisms (SNPs) and 74 indels. Thirteen SNPs were in exonic regions, 7 of them being missense variations. Seventeen variants were previously reported in ASD. Genes harboring variants have functions in the development and maintenance of the central nervous system and are enriched in biological processes involving cell adhesion. This is the first comprehensive genetic study of a monozygotic triplet in ASD.

BACKGROUND: The worldwide occurrence of triplet pregnancy is estimated to be 0.093%, with a natural incidence of approximately 1 in 8000. This study aims to analyze the neonatal health status and birth weight discordance (BWD) of triplets based on chorionicity from birth until discharge.
METHODS: This was a retrospective study. We reviewed a total of 136 triplet pregnancies at our tertiary hospital between January 1, 2001, and December 31, 2021. Maternal and neonatal outcomes, inter-triplet BWD, neonatal morbidity, and mortality were analyzed.
RESULTS: Among all cases, the rates of intrauterine death, neonatal death, and perinatal death were 10.29, 13.07, and 24.26%, respectively. Thirty-seven of the cases resulted in fetal loss, including 13 with fetal anomalies. The maternal complications and neonatal outcomes of the 99 triplet pregnancies without fetal loss were compared across different chorionicities, including a dichorionic (DC) group (41 cases), trichorionic (TC) group (37 cases), and monochorionic (MC) group (21 cases). Neonatal hypoproteinemia (P < 0.001), hyperbilirubinemia (P < 0.019), and anemia (P < 0.003) exhibited significant differences according to chorionicity, as did the distribution of BWD (P < 0.001). More than half of the cases in the DC and TC groups had a BWD < 15%, while those in the MC group had a BWD < 50% (47.6%). TC pregnancy decreased the risk of neonatal anemia (adjusted odds ratio [AOR] = 0.084) and need for blood transfusion therapy after birth (AOR = 0.119). In contrast, a BWD > 25% increased the risk of neonatal anemia (AOR = 10.135) and need for blood transfusion after birth (AOR = 7.127). TC pregnancy, MCDA or MCTA, and BWD > 25% increased neonatal hypoproteinemia, with AORs of 4.629, 5.123, and 5.343, respectively.
CONCLUSIONS: The BWD differed significantly according to chorionicity. Additionally, TC pregnancies reduced the risk of neonatal anemia and need for blood transfusion, but increased the risk of neonatal hypoproteinemia. In contrast, the BWD between the largest and smallest triplets increased the risk of neonatal anemia and the need for blood transfusion. TC pregnancy, MCDA or MCTA, and BWD > 25% increased the risks of neonatal hypoproteinemia. However, due to the limited number of triplet pregnancies, further exploration of the underlying mechanism is warranted.

OBJECTIVE: Triplet pregnancies involve several complications, the most important being prematurity as virtually all triplets are born preterm. We conducted this study to compare the outcomes of reduced vs. non-reduced triplet pregnancies managed in the largest tertiary hospital in Finland.
METHODS: This was a retrospective cohort study in the Helsinki University Hospital during 2006-2020. Data on the pregnancies, parturients and newborns were collected from patient records. The fetal number, chorionicity and amnionicity were defined in first-trimester ultrasound screening. The main outcome measures were perinatal and neonatal mortality of non-reduced triplets, compared to twins and singletons selectively reduced of triplet pregnancies.
RESULTS: There were 57 initially triplet pregnancies and 35 of these continued as non-reduced triplets and resulted in the delivery of 104 liveborn children. The remaining 22 cases were spontaneously or medically reduced to twins (9) or singletons (13). Most (54.4 %) triplet pregnancies were spontaneous. There were no significant differences in gestational age at delivery between triplets (mean 33+0, median 34+0) and those reduced to twins (mean 32+5, median 36+0). The survival at one week of age was higher for triplets compared to twins (p<0.00001).
CONCLUSIONS: Most pregnancies continued as non-reduced triplets, which were born at a similar gestational age but with a significantly higher liveborn rate compared to those reduced to twins. There were no early neonatal deaths among cases reduced to singletons. Prematurity was the greatest concern for multiples in this cohort, whereas the small numbers may explain the lack of difference in gestational age between these groups.

OBJECTIVE: Multiple pregnancies involve several complications, most often prematurity, but also higher anomaly rates. Reducing fetuses generally improves pregnancy outcomes. We conducted this study to evaluate the obstetrical and neonatal results after multifetal pregnancy reduction (MFPR) in the largest tertiary hospital in Finland.
METHODS: This retrospective cohort study included all MFPR managed in Helsinki University Hospital during a 13 year period (2007-2019). Data on pregnancies, parturients and newborns were collected from patient files. The number of fetuses, chorionicities and amnionicities were defined in first-trimester ultrasound screening.
RESULTS: There were 54 MFPR cases included in the final analyses. Most often the reduction was from twins to singletons (n=34, 63 %). Majority of these (25/34, 73.5 %) were due to co-twin anomaly. Triplets (n=16, 29.6 %) were reduced to twins (n=7, 13 %) or singletons (n=9, 16.7 %), quadruplets (n=2, 3.7 %) and quintuplets (n=2, 3.7 %) to twins. Most (33/54, 61.1 %) MFPR procedures were done by 15+0 weeks of gestation. There were six miscarriages after MFPR and one early co-twin miscarriage. In the remaining 47 pregnancies that continued as twins (n=7, 14.9 %) or singletons (n=40, 85.1 %) the liveborn rate was 90 % for one fetus and 71.4 % for two fetuses.
CONCLUSIONS: Most MFPR cases were pregnancies with an anomalous co-twin. The whole pregnancy loss risk was 11.1 % after MFPR. The majority (70.6 %) of twins were spontaneous, whereas all quadruplets, quintuplets, and 56.3 % of triplets were assisted reproductive technologies (ART) pregnancies. Careful counselling should be an essential part of obstetrical care in multiple pregnancies, which should be referred to fetomaternal units for MFPR option.

Triplet pregnancies are high risk for both the mother and the infants. The risks for infants include premature birth, low birthweight, and neonatal complications. Therefore, the management of triplet pregnancies involves close monitoring and may include interventions, such as fetal reduction, to prolong the pregnancy and improve outcomes. However, the evidence of benefits and risks associated with fetal reduction is inconsistent.
This study aimed to compare the outcomes of trichorionic triplet pregnancies with and without fetal reduction and with nonreduced dichorionic twin pregnancies and primary singleton pregnancies.
All trichorionic triplet pregnancies in Denmark, including those with fetal reduction, were identified between 2008 and 2018. In Denmark, all couples expecting triplets are informed about and offered fetal reduction. Pregnancies with viable fetuses at the first-trimester ultrasound scan and pregnancies not terminated were included. Adverse pregnancy outcome was defined as a composite of miscarriage before 24 weeks of gestation, stillbirth at 24 weeks of gestation, or intrauterine fetal death of 1 or 2 fetuses.
The study cohort was composed of 317 trichorionic triplet pregnancies, of which 70.0% of pregnancies underwent fetal reduction to a twin pregnancy, 2.2% of pregnancies were reduced to singleton pregnancies, and 27.8% of pregnancies were not reduced. Nonreduced triplet pregnancies had high risks of adverse pregnancy outcomes (28.4%), which was significantly lower in triplets reduced to twins (9.0%; difference, 19.4%, 95% confidence interval, 8.5%-30.3%). Severe preterm deliveries were significantly higher in nonreduced triplet pregnancies (27.9%) than triplet pregnancies reduced to twin pregnancies (13.1%; difference, 14.9%, 95% confidence interval, 7.9%-21.9%). However, triplet pregnancies reduced to twin pregnancies had an insignificantly higher risk of miscarriage (6.8%) than nonreduced twin pregnancies (1.1%; difference, 5.6%; 95% confidence interval, 0.9%-10.4%).
Triplet pregnancies reduced to twin pregnancies had significantly lower risks of adverse pregnancy outcomes, severe preterm deliveries, and low birthweight than nonreduced triplet pregnancies. However, triplet pregnancies reduced to twin pregnancies were potentially associated with a 5.6% increased risk of miscarriage.

This study evaluated prognostic performance of International Staging System (ISS), revised ISS, and chromosomal abnormalities (CA) in newly diagnosed multiple myeloma patients to describe treatment patterns (cohort 1; n = 1979) and survival outcomes (cohort 2; n = 1382). In both cohorts, ∼18%, 41%, and 37% of patients were high-risk according to the R-ISS, ISS, and high-risk CA criteria, respectively. Across all risk stratification criteria, 60% of patients received triplets. In cohort 2, the median modified progression-free survival decreased with each increasing risk stage (23.5, 12.1, and 8.8 months in R-ISS I, II, and III, respectively, and 16.0, 12.7, and 10.4 months in ISS I, II, and III). Similar trends were observed in the proportions of two-year overall survival. In conclusion, R-ISS has greater discriminatory power than ISS or high-risk CA alone and can be implemented in a real-world setting. Accordingly, a more risk-adapted approach can be feasible, with a greater population-level impact.

Differences in drawing development are conditioned by genetics, environment and individuality of children. Therefore, it is exciting to observe the drawing development in children, who are raised in the same environment and have a similar genetic basis, that is in twins, triplets, and so forth. In the study, we were interested in the similarities and differences in the drawing development of the triplets, two of which were identical twins (B1 and B2) and one was non-identical (A), and whether the characteristics of the drawing appear more congruently between B1 and B2 than with A. We proposed two hypotheses: H1: There are more similarities in drawings between identical twins (B1 vs B2) than between identical and non-identical one (A vs B1 and A vs B2); H2: The differences between non-identical and identical triplets are less pronounced at the beginning of the drawing development (in doodle phase) and become more distinctive in later development, in drawing of figure and space. We analysed 123 drawings that the triplets (41 drawings of each triplet) drew from 1 to 12 years of age at the same time and on the same topic. The results of our research have shown that both hypotheses can be confirmed. On the general level, there are more similarities in drawing between identical twins compared to non-identical ones; and the differences and similarities become more distinctive throughout the development, especially in figure drawing and in the depiction of space.

OBJECTIVE: This study aimed to evaluate the effect of the timing of selective reduction and finishing the number of fetuses on perinatal outcomes in triplets.
METHODS: The study assessed 417 cases of triplets. Perinatal outcomes were compared between selective reduction (SR) performed at 11-14+6 weeks of gestation and SR performed at 15-24+6 weeks of gestation for the same starting and finishing numbers of fetuses. Then, the perinatal outcomes of reduction to singletons and twins were compared for the same range of SR of gestational weeks.
RESULTS: The spontaneous abortion rate was 6.5% and 14.9%, respectively, when SR was performed at 11-14+6 weeks of gestation (214 cases) and at 15-24+6 weeks of gestation (94 cases) (p = .019). In total, 74 cases of triplets were reduced to singletons and 214 cases were reduced to twins when SR was performed at 11-14+6 weeks of gestation. Preterm labor rates, low birth weight rates, birth weights, and gestational ages at delivery also showed significant differences (p < .001). In total, 35 cases of triplets were reduced to singletons and 94 cases were reduced to twins when SR was performed at 15-24+6 weeks of gestation. The preterm labor rates, low birth weight rates, birth weights and gestational ages at delivery also significantly differed (p < .05).
CONCLUSIONS: When the starting and finishing numbers of fetuses were the same, the timing of SR could affect the spontaneous abortion rates. When the starting number of fetuses was the same, the timing of SR did not affect the neonatal outcome. However, the finishing number of fetuses was the influencing factor.

BACKGROUND: Over the last decades, there has been a substantial increase in the incidence of higher-order multiple gestations. Twin pregnancies are associated with an increased risk of gestational diabetes mellitus (GDM). The literature on GDM rates in triplet pregnancies is scarce.
METHODS: A retrospective cohort study was performed to assess the prevalence of GDM in women with a triplet pregnancy. GDM was defined through an abnormal oral glucose tolerance test (OGTT). A meta-analysis of GDM prevalence was also carried out.
RESULTS: A cohort of 60 women was included in the analysis. Of these, 19 (31.7%) were diagnosed with GDM. There were no differences in pregnancy outcomes between women with and without GDM. In the meta-analysis of 12 studies, which used a sound GDM definition, an estimated pooled prevalence of 12.4% (95% confidence interval: 6.9%-19.1%) was found. In a leave-one-out sensitivity analysis, the estimated GDM prevalence ranged from 10.7% to 14.1%.
CONCLUSIONS: The rate of GDM seems increased in women with triplets compared to singleton pregnancies. However, GDM did not impact short-term pregnancy outcomes.

To compare perinatal outcome and growth discordance between trichorionic triamniotic (TCTA) and dichorionic triamniotic (DCTA) or monochorionic triamniotic (MCTA) triplet pregnancies.
This was a multicenter cohort study using population-based data on triplet pregnancies from 11 Northern Survey of Twin and Multiple Pregnancy (NorSTAMP) maternity units and the Southwest Thames Region of London Obstetric Research Collaborative (STORK) multiple pregnancy cohort, for 2000-2013. Perinatal outcomes (from ≥ 24 weeks\' gestation to 28 days of age), intertriplet fetal growth and birth-weight (BW) discordance and neonatal morbidity were analyzed in TCTA compared with DCTA/MCTA pregnancies.
Monochorionic placentation of a pair or trio in triplet pregnancy (n = 72) was associated with a significantly increased risk of perinatal mortality (risk ratio, 2.7 (95% CI, 1.3-5.5)) compared with that in TCTA pregnancies (n = 68), due mainly to a much higher risk of stillbirth (risk ratio, 5.4 (95% CI, 1.6-18.2)), with 57% of all stillbirth cases resulting from fetofetal transfusion syndrome, while there was no significant difference in neonatal mortality (P = 0.60). The associations with perinatal mortality and stillbirth persisted when considering only pregnancies not affected by a major congenital anomaly. DCTA/MCTA triplets had lower BW and demonstrated greater BW discordance than did TCTA triplets (P = 0.049). Severe BW discordance of > 35% was 2.5-fold higher in DCTA/MCTA compared with TCTA pregnancies (26.1% vs 10.4%), but this difference did not reach statistical significance (P = 0.06), presumably due to low numbers. Triplets in both groups were delivered by Cesarean section in over 95% of cases, at a similar gestational age (median, 33 weeks\' gestation). The rate of respiratory (P = 0.28) or infectious (P = 0.08) neonatal morbidity was similar between the groups.
Despite close antenatal surveillance, monochorionic placentation of a pair or trio in triamniotic triplet pregnancy was associated with a significantly increased stillbirth risk, mainly due to fetofetal transfusion syndrome, and with greater size discordance. In liveborn triplets, there was no adverse effect of monochorionicity on neonatal outcome. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.