1. Introduction
The uterine malformation prevalence is 7% of the general population [
1,
2,
3,
4], including pathologies that may be affected by inaccurate diagnostic techniques [
5]. Higher associated rates of pregnancy complications have been reported in the literature, such as miscarriage, preterm delivery, miscarriage, fetal death, ectopic pregnancy, malpresentation, intrauterine growth restriction or other obstetric complications [
4,
5,
6,
7,
8,
9,
10]. High-risk pregnancy is associated with emotional stress, and thus professional support contributes to these pregnant women’s emotional well-being [
11].
Many classifications have been proposed for uterine malformations, with the most accurate being that of the American Society of Reproductive Medicine [
1,
12]. In addition, the European Society of Human Reproduction and Embryology/European Society for Gynecological Endoscopy (ESHRE/ESGE) classification is relevant and has increased clinical impact [
2]. Five main classes are included in this classification system: dysmorphic T-shaped uteri; septate uteri; uterus didelphys and bicornuate uteri; unicorporeal or unicornuate uteri; and aplastic uteri. In this classification, unclassified is class 6, while normal uteri are class 0 [
2,
13].
Different techniques are used to diagnose congenital uterine anomalies (CUAs): the most prominent is ultrasound, including 3D ultrasound (3D US), followed by hysterosalpingography (HSG), magnetic resonance imaging (MRI), hysteroscopy, and laparoscopy [
2]. According to most studies, uterine malformations are associated with poor obstetric outcomes [
4]. Surgical strategies have been employed to improve reproductive outcomes, but their effectiveness has not yet been demonstrated [
1,
8].
CUAs have been relatively understudied due to their rarity [
5,
6], meaning that their association with heavy mental pressure is poorly evaluated. Parental stress related to female infertility, poor obstetric outcomes, and premature infant hospitalization is a significant concern [
14]. Approximately 64% of parents are affected by the inability to achieve spontaneous conception [
14,
15], a situation that also affects their quality of life, with adverse social consequences such as marriage breakdown. Targeted psychological interventions are required to improve their quality of life [
16].
In this context, through our study, we aim to examine not only the obstetric complications encountered but also the psychological interventions and multidisciplinary approaches for parental counseling in our department. Our intention is to raise awareness of the importance of uterine malformation and the necessity of psychological interventions among both professionals and patients. Further studies are needed in order to find new and effective methods to improve fertility and pregnancy outcomes.
2. Materials and Methods
We conducted a retrospective pilot study on all women with congenital uterine malformations in our department between 2010 and 2017. The inclusion criteria were women with uterine abnormalities such as Müllerian agenesia, bicornuate uterus, unicornuate uterus, uterus didelphys, and septate uterus, determined according to the American College of Obstetricians and Gynecologists (ACOG) classification [
1,
12] as being associated with infertility or pregnancy. Infertility was defined according to the World Health Organization (WHO) criteria: patients with difficulty achieving a pregnancy after 12 months [
12]. Exclusion criteria were as follows: genital malformations encountered outside of the context of infertility or pregnancy, multiple pregnancies, or pregnancies with fetal anomalies; complex malformations were also excluded. In the study group, we included women with CUAs (
n = 26). Pregnancies in case of normal uteri were included in the reference group (
n = 25). We included a total of 51 women in our study. We recorded data about maternal obstetric and demographic characteristics.
The description of the malformations was obtained based on the ACOG recommendation [
1,
12] using 3D transvaginal ultrasonography, hysteroscopy and laparoscopy. Surgical procedures were the treatment tool used for this specific purpose, and also to confirm the diagnosis suggested by ultrasound. We evaluated the maternal evolution, as well as the short-term neonatal outcomes, such as birth weight, sex, Apgar score and intensive care unit admission, and then we compared the two groups.
Signed informed consent was obtained from all patients upon admission to our department. The Ethics Committee of the Clinical Studies of Emergency County Hospital Al Simionescu Hunedoara approved the research protocol and the publication of the articles (ethical approval number: 16552/04.11.2024).
Statistical Analysis
The normality distribution of numerical variables was assessed using the Kolmogorov–Smirnov test. Numerical data are expressed as means (standard deviation) or as medians (interquartile range) for normally and non-normally distributed data, respectively.
The Chi-squared test was used to compare categorical variables with the overall p-values provided in the tables. The level of statistical significance was set at p < 0.05, and all statistical tests were performed with SPSS, version 23.0.0 (SPSS Inc., Chicago, IL, USA).
4. Discussion
Uterine malformations are rare diseases associated with poor pregnancy outcomes [
1,
2,
3,
4]. As we have structured the results, in the discussions we focus on the aspects pursued: pregnancy outcomes in AUCS compared with normal uterus, diagnostic tools used in our study compared with the literature, surgical procedures, multidisciplinary approach and ethical concerns.
In our research, we observed the poorest obstetric outcomes in the case of Müllerian agenesia (infertility), followed by bicornuate uteri (infertility and miscarriage) (
p = 0.003). Similar results were obtained by Pedro [
4], wherein the bicornuate uterus groups were associated with pregnancy complications. This situation is linked with the underdiagnosis of congenital uterine anomalies (CUAs) [
17]. According to Kang et al. (2024) [
18], CUAs are associated with poor obstetrical outcomes such as higher early miscarriage rates and lower live birth rates [
18]. However, women with CUAs have a significantly higher risk of developing pregnancy complications, including infertility, compared to women with a normal uterus [
13]. Lin et al. (2004) [
19] found in their research that the poorest reproductive outcomes were obtained in women with unicornuate uteri, while an arcuate uterus, which is a variant of a normal uterus, is not associated with pregnancy complications. In case of a septate uterus, an increased miscarriage rate was detected [
19]. Our findings are similar to the literature. Analyzing the relation between malformation types and pregnancy outcomes, the most frequent malformation encountered was a subseptate uterus (11 of 26), associated with miscarriage in three cases, and placenta praevia, associated with preterm birth in three cases. In one case of a unicornuate uterus with a rudimentary horn, ectopic pregnancy was followed by hysterectomy. Only 14 out of 26 patients with CUAs gave birth to a live fetus compared to 22 out of 25 of those with normal pregnancies, meaning that the failure to give birth to a live newborn was statistically significantly increased (
p = 0.004). However, any anatomical defects can lead to complications, while successful embryo implantation depends on a proper endometrial cavity [
5]. The best outcomes were therefore obtained in pregnancies associated with a subseptate uterus and uterus didelphys, followed by preterm birth. Preterm birth was observed in uteri didelphys, unicornuate uteri, and subseptate uteri. Preterm birth was associated with other complications, for example, placenta praevia, breech presentation, or bleeding and also occurred alone. Unicornuate and didelphys uteri were also followed by miscarriages. However, according to De Angelis (2015), a successful pregnancy is possible [
20], but didelphys uteri have a higher risk of preterm delivery [
21] and IUGR [
22]. In our study, the most important complication encountered in women with CUAs was premature delivery, even after proper management of such pregnancies, which is similar to data in the literature [
21,
22,
23,
24,
25].
Uterine malformations remained underdiagnosed in our study, even if ultrasound demonstrated its efficacy. Confusion still exists in diagnosing such cases, especially between arcuate and subseptate uteri. Also, an ectopic pregnancy developed in the rudimentary horn of a woman with a unicornuate uterus was diagnosed only through laparotomy. This was corroborated by Li et al. (2019), who described a rupture of an ectopic first-trimester pregnancy developed in the rudimentary horn [
26]. Mistakes occur when investigating women with CUAs, which may lead to pregnancy mismanagement [
27]. CUME definitions for these conditions could help in diagnosing uterine malformations [
17].
The successful diagnostic tool used in our study was 3D transvaginal ultrasonography; however, other techniques were used, such as hysteroscopy, hysterography, and laparoscopy. Surgical interventions were considered for treatment, with cerclage being the most common surgical procedure used successfully in our study, reaching statistical significance (
p = 0.005). Cervical incompetence was not associated with any of these cases. Based on the findings in the literature, this procedure can be used most of the time with remarkable results [
4,
28]. However, the gold standard in AUCs diagnosis remains MRI [
29,
30]
Related to surgical interventions, in our study, the uterine cavity obtained after metroplasty was insufficient for the development of a normal pregnancy, and was followed by miscarriage. According to the literature, the rate of pregnancy can not be increased after metroplasty [
4], and according to Wang et al. (2019), the metroplasty was followed by infertility, a procedure also used in a case of a complete uterine septum [
31]. On the contrary, Ganti et al. (2024) suggested that hysteroscopic metroplasty can significantly improve pregnancy outcomes [
29], while Shokeir (2004) performed hysteroscopic septoplasty in women with unexplained infertility [
32]. In our research, hysteroscopic septum resection was successful in only one case of a subseptate uterus, followed by premature birth. Afterward, a high proportion of the affected women can conceive spontaneously [
31]. According to Akhtar et al. (2020), surgical procedures used as treatment for CUAs are not recommended because of the high risk they pose compared to their potential benefits [
30].
In our study, a rudimentary uterine horn was complicated by an ectopic pregnancy that ended with a hysterectomy. This was successfully diagnosed through ultrasound and confirmed after the surgical procedure.
Additionally, we analyzed neonatal outcomes in the pregnancies of women with CUAs compared with those in women with normal uteri. We encountered a low Apgar score (
p = 0.029) and high NICU admissions of neonates delivered by pregnant women with CUAs, which were significantly higher than in the control group (
p = 0.001). Birth weight was also statistically significantly lower in patients with uterine anomalies (
p = 0.0001). Our findings are similar to those obtained in a case report by Vaz et al. (2017) [
33]. Furthermore, Abe et al. reported severe cerebral palsy, a long-term neuro-developmental disorder, in a neonate after a pregnancy associated with a bicornuate uterus [
34]. Müllerian defects could be considered a risk factor for poor pregnancy outcomes, associated with placental abruption, intrauterine growth restriction, preeclampsia, and preterm delivery with high perinatal mortality [
29,
33]. Abnormal placental cord insertion was another complication reported in cases of pregnancies complicated by a CUA, which is associated with poor pregnancy outcomes [
30,
35].
Proper management of these conditions depends on a universally accepted classification system, which is needed in order to find appropriate prevention strategies [
28,
36]. In the future, different diagnostic modalities will be necessary for precise classification [
24,
37], but until then, CUAs can be easily misdiagnosed. According to Akkus et al. (2024), over one year, anomalies did not receive prior diagnosis, being discovered during cesarean section in a tertiary center [
38].
A multidisciplinary approach was necessary in a statistically significant proportion (
p = 0.002) of patients in our research. Abhinaya et al. conducted a study (2024), finding that those with CUAs require proper counseling in the antenatal period and proper monitoring during labor [
24,
39]. According to Hendy, three-quarters of parents experienced high overall stress levels [
14], while in our study, we identified an increased need for psychological support in association with a multidisciplinary approach, with a neonatologist being involved along with obstetricians. In cases of prematurity at the limit of viability, prenatal counseling should be introduced in clinical practice and adjusted to parental needs. Heterogeneity has been found among practitioners and trainees, and system-based hospital variation has been found [
40].
Gestational age limits regarding fetal viability have been gradually reduced because of advances in neonatal care. In decision-making processes, obstetricians should employ neonatologists and psychologists in guiding families. Parents will face challenges because of the high chances of severe sequelae of premature infants [
41,
42]. However, a study was conducted to identify the preferences of adults with children born prematurely because of the ethical considerations regarding the future of these infants. The author emphasized that these adults prefer a periviability guideline that takes into consideration multiple prognostic factors [
43]; the FIGO guideline explores the ethical complexities of this issue [
44]. Other studies were employed to analyze who should make decisions on lifesaving treatment for extremely premature infants born at the limits of viability, including considering parents’ and healthcare professionals’ involvement [
45]. A multidisciplinary approach to psychological support for parents confronting such dilemmas was also analyzed, and according to Hendy et al., even marital status and mental health were affected [
14]. In our research, marital status was not affected by CUAs and pregnancy complications related to these pathologies.
The strength of our study lies in the possibility of appropriate diagnosis and surgical management in cases of pregnancy associated with a uterine malformation. This was a quick, inexpensive retrospective study that identified gaps in the current knowledge and helped us to design a future appropriate management strategy. Women with uterine malformations should benefit from a multidisciplinary approach and psychological counseling, and should be informed about the CUA’s impact on fertility and obstetric outcomes; however, we observed a lack of awareness of the problems associated with CUAs in both patients and gynecologists.
A major limitation of our study is that it is an observational retrospective study. It was conducted in a single center. However, we used 3D transvaginal ultrasound, which is currently the most effective method along with MRI, the achieved accuracies exceeding 90–97% [
46]. The small sample size is another important limitation, but it is consistent with those in the literature, with malformations being rare in the general population according to ASRM [
47]. Further studies are needed in a multicentric study using additional diagnostic tools. A genetic perspective should be useful.